Klippel-Feil syndrome: a review of the literature Frikha, Rim Frikha, Rim Less Clinical Dysmorphology. 29(1):35-37, January 2020. Abstract Abstract Favorite PDF Permissions Go to Full Text of this Article Free
Two cases of Temple–Baraitser syndrome: natural history and further delineation of the clinical and radiologic phenotypes Shen, Joseph J. Shen, Joseph J. Less Clinical Dysmorphology. 24(2):55-60, April 2015. Abstract Abstract Favorite PDF Permissions Go to Full Text of this Article Open
Partial monosomy of chromosome 21 and congenital malformations monosomy of chromosome 21 and malformations Osiak, Lucas; Saraiva, João G.; Mestre, Viviane de F.; More Osiak, Lucas; Saraiva, João G.; Mestre, Viviane de F.; Ferrari, Lígia S.L.; Paiva, Wagner J.M.; de Lima, Renata L.L.F.; Salles, Maria J.S. Less Clinical Dysmorphology. 29(3):165-166, July 2020. Favorite PDF Permissions Free
Congenital neuroblastoma in a neonate with hypoparathyroidism-retardation-dysmorphism syndrome Golan-Tripto, Inbal; Ling, Eduard; Hershkovitz, Eli; More Golan-Tripto, Inbal; Ling, Eduard; Hershkovitz, Eli; Fruchtman, Yariv; Hazan, Guy Less Clinical Dysmorphology. 29(1):46-48, January 2020. Favorite PDF Permissions Free
The dysmorphic phenotype in vascular Ehlers Danlos syndrome Lyness, James R.; Morrison, Patrick J. Lyness, James R.; Morrison, Patrick J. Less Clinical Dysmorphology. 32(1):1-6, January 2023. Abstract Abstract Favorite PDF Permissions Buy
Coexistence of spinocerebellar ataxia autosomal recessive type 21 and Ehlers-Danlos syndrome spondylodysplastic type 3 in a patient Demir, Engin; Öncül, Ümmühan; Havan, Merve; More Demir, Engin; Öncül, Ümmühan; Havan, Merve; Tuna Kirsaçlioğlu, Ceyda; Eminoğlu, Fatma Tuba; Kendirli, Tanil; Kuloğlu, Zarife; Kansu, Aydan Less Clinical Dysmorphology. 32(1):25-28, January 2023. Favorite PDF Permissions Buy
Down syndrome with partial trisomy of chromosome 21 because of a de-novo unbalanced translocation t(13;21)(q10;q22) Maciejewski, Emilie; Vigneron, Jacqueline; Lambert, Laetitia; More Maciejewski, Emilie; Vigneron, Jacqueline; Lambert, Laetitia; Bonnet, Céline; Hascoët, Jean-Michel Less Clinical Dysmorphology. 21(4):200-203, October 2012. Favorite PDF Permissions Buy
Diverse clinical outcome of Hunter syndrome in patients with chromosomal aberration encompassing entire and partial IDS deletions: what is important for early diagnosis and counseling? Jezela-Stanek, Aleksandra; Pokora, Paulina; Młynek, Marlena; More Jezela-Stanek, Aleksandra; Pokora, Paulina; Młynek, Marlena; Smyk, Marta; Ziemkiewicz, Kamila; Różdżyńska-Świątkowska, Agnieszka; Tylki-Szymańska, Anna Less Clinical Dysmorphology. 30(2):76-82, April 2021. Abstract Abstract Favorite PDF Permissions Go to Full Text of this Article Open SDC
Noonan syndrome and systemic lupus erythematosus: presentation in childhood Alanay, Yasemin; Balci, Sevim; Ozen, Seza Alanay, Yasemin; Balci, Sevim; Ozen, Seza Less Clinical Dysmorphology. 13(3):161-163, July 2004. Abstract Abstract Favorite PDF Permissions Buy
Xq25 microduplication syndrome: a further contribution to its definition. A case report and review of the literature Turchi, Giulia; Bernardo, Pia; Consales, Alessandro; More Turchi, Giulia; Bernardo, Pia; Consales, Alessandro; Bilo, Leonilda; Coppola, Antonietta Less Clinical Dysmorphology. 29(2):90-96, April 2020. Favorite PDF Permissions Buy
Pierpont syndrome: report of a new patient Kahlert, Anne-Karin; Weidensee, Sabine; Mackenroth, Luisa; More Kahlert, Anne-Karin; Weidensee, Sabine; Mackenroth, Luisa; Porrmann, Joseph; Rump, Andreas; Di Donato, Nataliya; Schröck, Evelin; Tzschach, Andreas Less Clinical Dysmorphology. 26(4):205-208, October 2017. Abstract Abstract Favorite PDF Permissions Buy
Nitrogen Permease Regulator Like-2 (NPRL2) truncating mutation causes Ohtahara syndrome with incomplete penetrance: expanding the genotype-phenotype correlations Zhou, Xing; Chen, Feng-Ying; Ye, Xing-Guang; More Zhou, Xing; Chen, Feng-Ying; Ye, Xing-Guang; Liu, Zhi-Gang Less Clinical Dysmorphology. 31(4):181-184, October 2022. Favorite PDF Permissions Open
Cortical dysplasia associated with the PTEN mutation in Bannayan Riley Ruvalcaba syndrome: a rare finding O’Rourke, Declan John; Twomey, Eilish; Lynch, Sally-Ann; More O’Rourke, Declan John; Twomey, Eilish; Lynch, Sally-Ann; King, Mary D. Less Clinical Dysmorphology. 21(2):91-92, April 2012. Favorite PDF Permissions Buy
Rubinstein–Taybi syndrome 2 with cerebellar abnormality and neural tube defect Hadzsiev, Kinga; Gyorsok, Zsuzsanna; Till, Agnes; More Hadzsiev, Kinga; Gyorsok, Zsuzsanna; Till, Agnes; Czakó, Márta; Bartsch, Oliver Less Clinical Dysmorphology. 28(3):135-139, July 2019. Abstract Abstract Favorite PDF Permissions Go to Full Text of this Article Open
Multiple Mongolian spots in an individual with Kleefstra syndrome caused by a novel nonsense euchromatin histone methyltransferase 1 variant Pan, Xiang; Lu, Jun Pan, Xiang; Lu, Jun Less Clinical Dysmorphology. 32(1):29-31, January 2023. Favorite PDF Permissions Open
Atypical, milder presentation in a child with CC2D2A and KIDINS220 variants Lam, Zena; Albaba, Shadi; Study, DDD; More Lam, Zena; Albaba, Shadi; Study, DDD; Balasubramanian, Meena Less Clinical Dysmorphology. 29(1):10-16, January 2020. Abstract Abstract Favorite PDF Permissions Go to Full Text of this Article Free
Chondrodysplasia punctata: a clinical diagnostic and radiological review Irving, Melita D.; Chitty, Lyn S.; Mansour, Sahar; More Irving, Melita D.; Chitty, Lyn S.; Mansour, Sahar; Hall, Christine M. Less Clinical Dysmorphology. 17(4):229-241, October 2008. Abstract Abstract Favorite PDF Permissions Buy
Umbilical pigmentation in Peutz–Jeghers syndrome Morrison, Peter T.; Donnelly, Deirdre E.; Morrison, Patrick J. Morrison, Peter T.; Donnelly, Deirdre E.; Morrison, Patrick J. Less Clinical Dysmorphology. 23(3):114-115, July 2014. Favorite PDF Permissions Buy
Two novel mutations in RNU4ATAC in two siblings with an atypical mild phenotype of microcephalic osteodysplastic primordial dwarfism type 1 Krøigård, Anne B.; Jackson, Andrew P.; Bicknell, Louise S.; More Krøigård, Anne B.; Jackson, Andrew P.; Bicknell, Louise S.; Baple, Emma; Brusgaard, Klaus; Hansen, Lars K.; Ousager, Lilian B. Less Clinical Dysmorphology. 25(2):68-72, April 2016. Favorite PDF Permissions Open
A girl with a neurodevelopmental syndrome, adducted thumbs and frequent infections caused by novel homozygous variant in DEAF1 Sumathipala, Dulika S.; Misceo, Doriana; Larsen, Selma Mujezinovic; More Sumathipala, Dulika S.; Misceo, Doriana; Larsen, Selma Mujezinovic; Barøy, Tuva; Gamage, Thilini H.; Frengen, Eirik; Strømme, Petter Less Clinical Dysmorphology. 29(2):107-110, April 2020. Favorite PDF Permissions Buy
Recurrent c.776T>C mutation in CHST3 with four other novel mutations and a literature review Duz, Mehmet Bugrahan; Topak, Ali Duz, Mehmet Bugrahan; Topak, Ali Less Clinical Dysmorphology. 29(4):167-172, October 2020. Abstract Abstract Favorite PDF Permissions Buy
3MC syndrome: molecular findings in previously reported and milder patients expand the natural history and phenotypic spectrum Ashton, Chloe Jade; Perveen, Rahat; Beaman, Glenda; More Ashton, Chloe Jade; Perveen, Rahat; Beaman, Glenda; Crisponi, Giangiorgio; González-Del Angel, Ariadna; Garza-Mayén, Gilda; Alcántara-Ortigoza, Miguel Angel; O’Sullivan, James; Clayton-Smith, Jill Less Clinical Dysmorphology. 32(1):7-13, January 2023. Abstract Abstract Favorite PDF Permissions Buy
Two siblings with GAPO syndrome: a novel missense variant in ANTXR1 Yildiz, Onur; Taşdelen, Elifcan; Karakaya, Taner; More Yildiz, Onur; Taşdelen, Elifcan; Karakaya, Taner; Taşdelen, Harun Less Clinical Dysmorphology. 31(4):191-195, October 2022. Favorite PDF Permissions Buy
Mosaic and complete tetraploidy in live-born infants: two new patients and review of the literature Stefanova, Irina; Jenderny, Jutta; Kaminsky, Elke; More Stefanova, Irina; Jenderny, Jutta; Kaminsky, Elke; Mannhardt, Anca; Meinecke, Peter; Grozdanova, Liliana; Gillessen-Kaesbach, Gabriele Less Clinical Dysmorphology. 19(3):123-127, July 2010. Abstract Abstract Favorite PDF Permissions Buy
A novel TWIST1 gene mutation in a patient with Saethre–Chotzen syndrome Altiner, Sule; Karabulut, Halil G.; Yararbas, Kanay; More Altiner, Sule; Karabulut, Halil G.; Yararbas, Kanay; Tükün, Ajlan; Collet, Corinne; Kocaay, Pinar; Berberoglu, Merih; Ilgin Ruhi, Hatice Less Clinical Dysmorphology. 26(3):175-178, July 2017. Favorite PDF Permissions Buy
Intrafamilial variability and neurological manifestations in two siblings with carbohydrate sulfotransferase 3-related skeletal dysplasia Rivera-Vargas, Jehú; Superti-Furga, Andrea; Bonafé, Luisa; More Rivera-Vargas, Jehú; Superti-Furga, Andrea; Bonafé, Luisa; Peña-Padilla, Christian; Cortés-Pastrana, Rocío Carolina; Bobadilla-Morales, Lucina; Corona-Rivera, Alfredo; Corona-Rivera, Jorge Román Less Clinical Dysmorphology. 32(1):14-17, January 2023. Favorite PDF Permissions Buy
A novel COL1A1 mutation causing a variant of osteogenesis imperfecta McVey, Lindsey C.; Mason, Avril; Pollitt, Rebecca; More McVey, Lindsey C.; Mason, Avril; Pollitt, Rebecca; Ahmed, Syed Faisal; Kinning, Esther Less Clinical Dysmorphology. 26(4):243-246, October 2017. Favorite PDF Permissions Buy
Kabuki syndrome: expanding the phenotype to include microphthalmia and anophthalmia McVeigh, Terri P.; Banka, Siddharth; Reardon, William McVeigh, Terri P.; Banka, Siddharth; Reardon, William Less Clinical Dysmorphology. 24(4):135-139, October 2015. Abstract Abstract Favorite PDF Permissions Buy
RAF1-associated Noonan syndrome presenting antenatally with an abnormality of skull shape, subdural haematoma and associated with novel cerebral malformations Hartill, Verity L.; Dillon, Mitchell W.; Warren, Daniel J.; More Hartill, Verity L.; Dillon, Mitchell W.; Warren, Daniel J.; Blyth, Moira Less Clinical Dysmorphology. 26(2):101-106, April 2017. Favorite PDF Permissions Buy
Novel de novo mutation in ZBTB20 in primrose syndrome in boy with short stature Grímsdóttir, Sigrún; Hove, Hanne B.; Kreiborg, Sven; More Grímsdóttir, Sigrún; Hove, Hanne B.; Kreiborg, Sven; Ek, Jakob; Johansen, Anders; Darvann, Tron A.; Hermann, Nuno V. Less Clinical Dysmorphology. 28(1):41-45, January 2019. Favorite PDF Permissions Buy
A further case of hypotonia, ataxia, developmental delay and tooth enamel defect syndrome due to a recurrent C-terminal binding protein 1 mutation Bhatia, Sameer Kumar; Arora, Veronica; Verma, Ishwar Chander Bhatia, Sameer Kumar; Arora, Veronica; Verma, Ishwar Chander Less Clinical Dysmorphology. 29(3):148-151, July 2020. Favorite PDF Permissions Buy
Expanding the phenotype in autosomal dominant mental retardation-24: a novel variation in DEAF1 gene Sharma, Pankaj; Gambhir, Poonam S.; Phadke, Shubha R.; More Sharma, Pankaj; Gambhir, Poonam S.; Phadke, Shubha R.; Mandal, Kausik Less Clinical Dysmorphology. 28(2):94-97, April 2019. Favorite PDF Permissions Buy
Identification of a novel homozygous TBC1D24 mutation in a Turkish family with DOORS syndrome Atli, Engin; Gurkan, Hakan; Ulusal, Selma; More Atli, Engin; Gurkan, Hakan; Ulusal, Selma; Karal, Yasemin; Atli, Emine I.; Tozkir, Hilmi Less Clinical Dysmorphology. 27(1):1-3, January 2018. Favorite PDF Permissions Buy
Haploinsufficiency of AKT3 gene causing microcephaly and psychomotor delay in a patient with 1q43q44 microdeletion Pelle, Alessandra; Modena, Piergiorgio; Cavallini, Anna; More Pelle, Alessandra; Modena, Piergiorgio; Cavallini, Anna; Selicorni, Angelo Less Clinical Dysmorphology. 29(2):97-100, April 2020. Abstract Abstract Favorite PDF Permissions Buy
A familial case of NOG-related symphalangism spectrum disorder due to a novel NOG variant Parmeggiani, Giulia; Gualandi, Francesca; Limarzi, Marco; More Parmeggiani, Giulia; Gualandi, Francesca; Limarzi, Marco; Ferlini, Alessandra; Brotto, Davide; Martini, Alessandro; Sensi, Alberto Less Clinical Dysmorphology. 31(4):185-190, October 2022. Favorite PDF Permissions Buy
Dental management in a patient with Crisponi/cold-induced sweating syndrome type 1: a case report Akleyin, Ebru; Yeniçeri Özata, Merve; Crisponi, Giangiorgio Akleyin, Ebru; Yeniçeri Özata, Merve; Crisponi, Giangiorgio Less Clinical Dysmorphology. 31(3):136-140, July 2022. Favorite PDF Permissions Buy
3q27.3 Microdeletion syndrome: further delineation of the second region of overlap and atopic dermatitis as a phenotypic feature Jewell, Rosalyn; Eng, Bennett; Coates, Andrea; More Jewell, Rosalyn; Eng, Bennett; Coates, Andrea; Hewitt, Sarah; Hobson, Emma Less Clinical Dysmorphology. 26(3):154-156, July 2017. Favorite PDF Permissions Buy
Novel guanosine diphosphate-mannose pyrophosphorylase A variant in an individual with achalasia, alacrima, and intellectual disability Sager, Gunes; Türkyilmaz, Ayberk; Hanedar, Yasemin Dilek; More Sager, Gunes; Türkyilmaz, Ayberk; Hanedar, Yasemin Dilek; Günbey, Hediye Pinar; Akin, Yasemin Less Clinical Dysmorphology. 32(1):18-20, January 2023. Favorite PDF Permissions Buy
Autosomal recessive EXT2 syndrome - extending the phenotypic spectrum of an emerging condition, a further case? Sabir, Ataf H.; Singhal, Juhi; Man, Jessica; More Sabir, Ataf H.; Singhal, Juhi; Man, Jessica; Cooper, Nicola; Cheung, Moira; Irving, Melita Less Clinical Dysmorphology. 31(2):84-90, April 2022. Favorite PDF Permissions Buy
Recurrent 1q21.1 deletion syndrome: report on variable expression, nonpenetrance and review of literature Upadhyai, Priyanka; Amiri, Eram Fatima; Guleria, Vishal Singh; More Upadhyai, Priyanka; Amiri, Eram Fatima; Guleria, Vishal Singh; Bielas, Stephanie L.; Girisha, Katta Mohan; Shukla, Anju Less Clinical Dysmorphology. 29(3):127-131, July 2020. Abstract Abstract Favorite PDF Permissions Buy
Biallelic DNAJC3 variants in a neuroendocrine developmental disorder with insulin dysregulation Ocansey, Sharon; Pullen, Debbie; Atkinson, Patricia; More Ocansey, Sharon; Pullen, Debbie; Atkinson, Patricia; Clarke, Antonia; Hadonou, Medard; Crosby, Charlene; Short, John; Lloyd, Ian Christopher; Smedley, Damian; Assunta, Albanese; Genomics England Research Consortium; Shah, Pratik; McEntagart, Meriel Less Clinical Dysmorphology. 31(1):11-17, January 2022. Abstract Abstract Favorite PDF Permissions Buy
Alpha-mannosidosis in a family: natural history with an uncommon retinal dystrophy Sandal, Sapna; Razdan, Tinku Bali; Verma, Jyotsna; More Sandal, Sapna; Razdan, Tinku Bali; Verma, Jyotsna; Dubey, Sudhisha; Ghosh, Apurba; Saxena, Renu; Puri, Ratna Dua Less Clinical Dysmorphology. 30(2):110-114, April 2021. Favorite PDF Permissions Buy
Expanding the phenotype of PURA-related neurodevelopmental disorder: a close differential diagnosis of infantile hypotonia with psychomotor retardation and characteristic facies Mishra, Shivani; Girisha, Katta Mohan; Shukla, Anju Mishra, Shivani; Girisha, Katta Mohan; Shukla, Anju Less Clinical Dysmorphology. 30(1):1-5, January 2021. Abstract Abstract Favorite PDF Permissions Buy SDC
Novel TBX3 mutation in a family of Cypriot ancestry with ulnar-mammary syndrome Tanteles, George A.; Nicolaou, Nayia; Syrimis, Andreas; More Tanteles, George A.; Nicolaou, Nayia; Syrimis, Andreas; Metaxa, Rafaella; Nicolaou, Michael; Christophidou-Anastasiadou, Violetta; Skordis, Nicos Less Clinical Dysmorphology. 26(2):61-65, April 2017. Abstract Abstract Favorite PDF Permissions Buy
Colon hypoganglionosis in Beckwith-Wiedemann syndrome: a new rare comorbidity? Cazzaniga, Laura; Parma, Barbara; Licini, Lisa; More Cazzaniga, Laura; Parma, Barbara; Licini, Lisa; Dalla Rosa, Davide; Cheli, Maurizio; Selicorni, Angelo Less Clinical Dysmorphology. 31(1):18-22, January 2022. Abstract Abstract Favorite PDF Permissions Buy
RAF1 variants causing biventricular hypertrophic cardiomyopathy in two preterm infants: further phenotypic delineation and review of literature Thompson, Danielle; Patrick-Esteve, Jessica; Surcouf, Jeffrey W.; More Thompson, Danielle; Patrick-Esteve, Jessica; Surcouf, Jeffrey W.; Rivera, Dana; Castellanos, Bianca; Desai, Pooja; Lilje, Christian; Lacassie, Yves; Marble, Michael; Zambrano, Regina Less Clinical Dysmorphology. 26(4):195-199, October 2017. Abstract Abstract Favorite PDF Permissions Buy
Homozygous variant p.(Arg163Trp) in PIGH causes glycosylphosphatidylinositol biosynthesis defect with epileptic encephalopathy and delayed myelination do Rosario, Michelle C.; Kaur, Parneet; Girisha, Katta Mohan; More do Rosario, Michelle C.; Kaur, Parneet; Girisha, Katta Mohan; Bielas, Stephanie; Shukla, Anju Less Clinical Dysmorphology. 31(4):196-200, October 2022. Favorite PDF Permissions Buy SDC
Bilateral hand malformations with absence of carpal bones with fusion of proximal metacarpals Gurav, Ravindra Muralidhar; Patil, Annasaheb B. Gurav, Ravindra Muralidhar; Patil, Annasaheb B. Less Clinical Dysmorphology. 21(1):56-57, January 2012. Favorite PDF Permissions Buy
Pierpont syndrome due to mutation c.1337A>G in TBL1XR1 gene Tesarova, Marketa; Baxova, Alice; Hansikova, Hana; More Tesarova, Marketa; Baxova, Alice; Hansikova, Hana; Lambert, Lukas; Vondrackova, Alzbeta; Leiska, Alena; Zeman, Jiri Less Clinical Dysmorphology. 31(3):145-148, July 2022. Favorite PDF Permissions Buy
Ophthalmic manifestations associated with RARB mutations Wangtiraumnuay, Nutsuchar; Kopinsky, Sarina; Iyer, Prashanth; More Wangtiraumnuay, Nutsuchar; Kopinsky, Sarina; Iyer, Prashanth; Capasso, Jenina; Whitehead, Rick; Schneider, Adele; Levin, Alex V. Less Clinical Dysmorphology. 28(1):46-49, January 2019. Favorite PDF Permissions Buy
Further delineation of interstitial chromosome 6 deletion syndrome and review of the literature Zherebtsov, Monica M.; Klein, Rachel T.; Aviv, Hana; More Zherebtsov, Monica M.; Klein, Rachel T.; Aviv, Hana; Toruner, Gokce A.; Hanna, Nazeeh N.; Brooks, Susan Sklower Less Clinical Dysmorphology. 16(3):135-140, July 2007. Abstract Abstract Favorite PDF Permissions Buy
Neurodevelopmental disorder with microcephaly, ataxia, and seizures syndrome: expansion of the clinical spectrum Karaer, Kadri; Karaer, Derya; Yüksel, Zafer; More Karaer, Kadri; Karaer, Derya; Yüksel, Zafer; Işikay, Sedat Less Clinical Dysmorphology. 31(4):167-173, October 2022. Abstract Abstract Favorite PDF Permissions Buy
Small duplication of chromosome (7)(p22.1p22.2) and consideration of a dup 7p syndrome critical region AlFardan, Jaffar; Brown, Kathleen; Gessner, Janine; More AlFardan, Jaffar; Brown, Kathleen; Gessner, Janine; Lunt, Brenda; Scharer, Gunter Less Clinical Dysmorphology. 20(4):217-221, October 2011. Favorite PDF Permissions Buy
X-Autosome translocations: X-inactivation and effect on phenotype Strong, Alanna; Callahan, Katharine Press; Guo, Rose; More Strong, Alanna; Callahan, Katharine Press; Guo, Rose; Ron, Hayley; Zackai, Elaine H. Less Clinical Dysmorphology. 30(4):186-188, October 2021. Favorite PDF Permissions Buy SDC
Personalized therapy in a GRIN1 mutated girl with intellectual disability and epilepsy Papa, Filomena T.; Mancardi, Maria M.; Frullanti, Elisa; More Papa, Filomena T.; Mancardi, Maria M.; Frullanti, Elisa; Fallerini, Chiara; Della Chiara, Veronica; Zalba-Jadraque, Laura; Baldassarri, Margherita; Gamucci, Alessandra; Mari, Francesca; Veneselli, Edvige; Renieri, Alessandra Less Clinical Dysmorphology. 27(1):18-20, January 2018. Favorite PDF Permissions Buy
Uniparental disomy as a mechanism for X-linked chondrodysplasia punctata Woods, Emily; Yates, Michael; Kanani, Farah; More Woods, Emily; Yates, Michael; Kanani, Farah; Balasubramanian, Meena Less Clinical Dysmorphology. 31(3):132-135, July 2022. Abstract Abstract Favorite PDF Permissions Buy
A further case of Skraban-Deardorff syndrome and review of the literature Shirley Cheng, Sze Wing; Luk, Ho-Ming; Lo, Fai Man Ivan Shirley Cheng, Sze Wing; Luk, Ho-Ming; Lo, Fai Man Ivan Less Clinical Dysmorphology. 31(2):79-83, April 2022. Favorite PDF Permissions Buy
Circumferential skin folds and multiple anomalies: confirmation of a distinct autosomal recessive Michelin tire baby syndrome Ulucan, Hakan; Koparir, Erkan; Koparir, Asuman; More Ulucan, Hakan; Koparir, Erkan; Koparir, Asuman; Karaca, Ender; Emre, Ramazan; Gezdirici, Alper; Yosunkaya, Elif; Seven, Mehmet; Ozen, Mustafa; Yuksel, Adnan Less Clinical Dysmorphology. 22(2):87-90, April 2013. Favorite PDF Permissions Buy
KIAA0753-related skeletal ciliopathy: a ninth case, extending the phenotype and reporting a novel variant Sabir, Ataf H; Sheikh, Jameela; Gowda, Vasantha; More Sabir, Ataf H; Sheikh, Jameela; Gowda, Vasantha; Wallis, Colin; Singham, Surendra; Durve, Dipalee; Cocca, Alessandra; Holder-Espinasse, Muriel; Irving, Melita Less Clinical Dysmorphology. 30(3):142-146, July 2021. Abstract Abstract Favorite PDF Permissions Buy
A MID1 mutation associated with reduced penetrance of X-linked Opitz G/BBB syndrome Ruiter, Mariken; Kamsteeg, Erik-Jan; Meroni, Germana; More Ruiter, Mariken; Kamsteeg, Erik-Jan; Meroni, Germana; de Vries, Bert B.A. Less Clinical Dysmorphology. 19(4):195-197, October 2010. Abstract Abstract Favorite PDF Permissions Buy
Expansion of phenotype of DDX3X syndrome: six new cases Beal, Bryony; Hayes, Ian; McGaughran, Julie; More Beal, Bryony; Hayes, Ian; McGaughran, Julie; Amor, David J.; Miteff, Christina; Jackson, Victoria; van Reyk, Olivia; Subramanian, Gopinath; Hildebrand, Michael S.; Morgan, Angela T.; Goel, Himanshu Less Clinical Dysmorphology. 28(4):169-174, October 2019. Abstract Abstract Favorite PDF Permissions Buy SDC
Extending the phenotype and an ECEL1 gene mutation in distal arthrogryposis type 5D Rai, Archana; Puri, Ratna D.; Phadke, Shubha R. Rai, Archana; Puri, Ratna D.; Phadke, Shubha R. Less Clinical Dysmorphology. 27(4):130-134, October 2018. Favorite PDF Permissions Buy
Mild case of Curry–Jones syndrome Thomas, Ellen R.A.; Wakeling, Emma L.; Goodman, Frances R.; More Thomas, Ellen R.A.; Wakeling, Emma L.; Goodman, Frances R.; Dickinson, John C.; Hall, Christine M.; Brady, Angela F. Less Clinical Dysmorphology. 15(2):115-117, April 2006. Abstract Abstract Favorite PDF Permissions Buy
Clinical report: inherited deletion of chromosome 12q21.31q21.32 associated with a distinct phenotype and intellectual disability Akilapa, Rhoda S.; Smith, Kath; Balasubramanian, Meena Akilapa, Rhoda S.; Smith, Kath; Balasubramanian, Meena Less Clinical Dysmorphology. 24(4):151-155, October 2015. Favorite PDF Permissions Buy
De-novo ‘pure’ partial trisomy (6)(p22.3→pter): a case report and review of the literature Sivasankaran, Aswini; Murthy, Kanakavalli; Oruganti, Venkata P.; More Sivasankaran, Aswini; Murthy, Kanakavalli; Oruganti, Venkata P.; Deenadayalu, Anuradha; R. Samuel, Chandra; Kandukuri, Lakshmi R. Less Clinical Dysmorphology. 26(1):26-32, January 2017. Abstract Abstract Favorite PDF Permissions Buy
Adams–Oliver syndrome: further evidence of an autosomal recessive variant Temtamy, Samia A.; Aglan, Mona S.; Ashour, Adel M.; More Temtamy, Samia A.; Aglan, Mona S.; Ashour, Adel M.; Zaki, Maha S. Less Clinical Dysmorphology. 16(3):141-149, July 2007. Abstract Abstract Favorite PDF Permissions Buy
Two novel variants and follow-up findings in four children with Bloom syndrome from two families Kasap, Busra; Guclu-Geyik, Filiz; Uludag Alkaya, Dilek; More Kasap, Busra; Guclu-Geyik, Filiz; Uludag Alkaya, Dilek; Cetin, Güven; Tuysuz, Beyhan Less Clinical Dysmorphology. 31(1):31-35, January 2022. Favorite PDF Permissions Buy
Familial multiple ventricular extrasystoles, short stature, craniofacial abnormalities and digital hypoplasia: a further case of Stoll syndrome? Mercer, Catherine L.; Keeton, Barry; Dennis, Nicolas R. Mercer, Catherine L.; Keeton, Barry; Dennis, Nicolas R. Less Clinical Dysmorphology. 17(2):91-93, April 2008. Abstract Abstract Favorite PDF Permissions Buy
A novel homozygous frameshift mutation in the TUSC3 gene identified in siblings with intellectual disability Özmansur, Elif Nurdan; Pedük, Yakup; Gümüş, Hakan; More Özmansur, Elif Nurdan; Pedük, Yakup; Gümüş, Hakan; Çağlayan, Ahmet Okay; Per, Hüseyin Less Clinical Dysmorphology. 31(1):36-38, January 2022. Favorite PDF Permissions Buy
Atypical medial femoral condylar fracture in Stuve-Wiedemann syndrome Ozkale Yavuz, Ozlem; Yildiz, Adalet Elcin; Aydingoz, Ustun Ozkale Yavuz, Ozlem; Yildiz, Adalet Elcin; Aydingoz, Ustun Less Clinical Dysmorphology. 31(1):28-30, January 2022. Favorite PDF Permissions Buy
Myhre syndrome: a report of six Chinese patients and literature review Yu, Kris Pui-Tak; Luk, Ho-Ming; Chung, Brian Hon-Yin; More Yu, Kris Pui-Tak; Luk, Ho-Ming; Chung, Brian Hon-Yin; Lo, Ivan Fai-Man Less Clinical Dysmorphology. 28(3):143-148, July 2019. Favorite PDF Permissions Buy
Enostosis in a patient with KBG syndrome caused by a novel missense ANKRD11 variant Geckinli, Bilgen Bilge; Alavanda, Ceren; Arslan Ates, Esra; More Geckinli, Bilgen Bilge; Alavanda, Ceren; Arslan Ates, Esra; Yildirim, Ozlem; Arman, Ahmet Less Clinical Dysmorphology. 31(3):153-156, July 2022. Favorite PDF Permissions Buy
16p13.11-p12.3 Microdeletion identified in a patient with sagittal craniosynostosis and developmental delay Maldžiene, Živile; Bulanovaite, Elena; Aleksiuniene, Beata; More Maldžiene, Živile; Bulanovaite, Elena; Aleksiuniene, Beata; Utkus, Algirdas; Preiksaitiene, Egle Less Clinical Dysmorphology. 28(4):195-197, October 2019. Favorite PDF Permissions Buy
A novel EFTUD2 mutation identified an adult male with mandibulofacial dysostosis Guion-Almeida type Narumi-Kishimoto, Yoko; Ozawa, Hiroshi; Yanagi, Kumiko; More Narumi-Kishimoto, Yoko; Ozawa, Hiroshi; Yanagi, Kumiko; Kawai, Tomoko; Okamura, Koji; Hata, Kenichiro; Kaname, Tadashi; Matsubara, Yoichi Less Clinical Dysmorphology. 29(4):186-188, October 2020. Favorite PDF Permissions Buy
Novel variant c.1838A>G, p.(Gln613Arg) in NALCNcauses camptodactyly and cognitive delay Singh, Parshw; Agrawal, Neha; Maurya, Rajesh Kumar; More Singh, Parshw; Agrawal, Neha; Maurya, Rajesh Kumar; Moirangthem, Amita Less Clinical Dysmorphology. 31(4):206-210, October 2022. Favorite PDF Permissions Buy
PLS3 whole gene deletion as a cause of X-linked osteoporosis: Clinical report with review of published PLS3 literature Apperley, Louise J.; Albaba, Shadi; Dharmaraj, Poonam; More Apperley, Louise J.; Albaba, Shadi; Dharmaraj, Poonam; Balasubramanian, Meena Less Clinical Dysmorphology. 32(1):43-47, January 2023. Favorite PDF Permissions Buy
Further delineation of DDX3X syndrome Chanes, Nicolas M.; Wong, Joaquin; Lacassie, Yves Chanes, Nicolas M.; Wong, Joaquin; Lacassie, Yves Less Clinical Dysmorphology. 28(3):149-151, July 2019. Favorite PDF Permissions Buy
Mild presentation of the congenital variant Rett syndrome in a Pakistani male: expanding the phenotype of the forkhead box protein G1 spectrum Khan, Aleena Arij; Kirmani, Salman Khan, Aleena Arij; Kirmani, Salman Less Clinical Dysmorphology. 29(2):111-113, April 2020. Favorite PDF Permissions Buy
A novel Ser40Trp variant in IFITM5 in a family with osteogenesis imperfecta and review of the literature Lim, Jiin Ying; Bhatia, Neha Singh; Vasanwala, Rashida Farhad; More Lim, Jiin Ying; Bhatia, Neha Singh; Vasanwala, Rashida Farhad; Chay, Pui Ling; Lim, Kevin Boon Leong; Khoo, Poh Choo; Schwarze, Ulrike; Jamuar, Saumya Shekhar Less Clinical Dysmorphology. 28(3):118-123, July 2019. Abstract Abstract Favorite PDF Permissions Buy
Patient with a neurofibromatosis type 1 mutation but a clinical diagnosis of Noonan syndrome Croonen, Ellen A.; Yntema, Helger G.; van Minkelen, Rick; More Croonen, Ellen A.; Yntema, Helger G.; van Minkelen, Rick; van den Ouweland, Ans M.W.; van der Burgt, Ineke Less Clinical Dysmorphology. 21(4):212-214, October 2012. Favorite PDF Permissions Buy
Mosaic monosomy 14: clinical features and recognizable facies McConnell, V.; Derham, R.; McManus, D.; More McConnell, V.; Derham, R.; McManus, D.; Morrison, P.J. Less Clinical Dysmorphology. 13(3):155-160, July 2004. Abstract Abstract Favorite PDF Permissions Buy
Aortic and pulmonary artery dilatation in Cantu syndrome: expanding the phenotype Chew, Yi-Rong; Lim, Jiin-Ying; Teoh, Oon-Hoe; More Chew, Yi-Rong; Lim, Jiin-Ying; Teoh, Oon-Hoe; Chen, Ching-Kit; Foo, Roger; Lai, Angeline HM; Jamuar, Saumya S. Less Clinical Dysmorphology. 28(3):165-167, July 2019. Favorite PDF Permissions Buy SDC
Phenotype of two Polish patients with Schaaf–Yang syndrome confirmed by identifying mutation in MAGEL2 gene Matuszewska, Karolina E.; Badura-Stronka, Magdalena; Smigiel, Robert; More Matuszewska, Karolina E.; Badura-Stronka, Magdalena; Smigiel, Robert; Cabala, Magdalena; Biernacka, Anna; Kosinska, Joanna; Rydzanicz, Malgorzata; Winczewska-Wiktor, Anna; Sasiadek, Maria; Latos-Bielenska, Anna; Zemojtel, Tomasz; Ploski, Rafal Less Clinical Dysmorphology. 27(2):49-52, April 2018. Favorite PDF Permissions Buy
Fumarase deficiency: a rare disorder on the crossroads of clinical and metabolic genetics, neurology and cancer Prasad, Charushree; Napier, Melanie P.; Rupar, Charles A.; More Prasad, Charushree; Napier, Melanie P.; Rupar, Charles A.; Prasad, Chitra Less Clinical Dysmorphology. 26(2):117-120, April 2017. Favorite PDF Permissions Buy
Cantu syndrome and lymphoedema García-Cruz, Diana; Mampel, Alejandra; Echeverria, Maria I.; More García-Cruz, Diana; Mampel, Alejandra; Echeverria, Maria I.; Vargas, Ana L.; Castañeda-Cisneros, Gema; Davalos-Rodriguez, Nory; Patiño-Garcia, Brenda; Garcia-Cruz, Maria O.; Castañeda, Victor; Cardona, Ernesto G.; Marin-Solis, Bertha; Cantu, Jose M.; Nuñez-Reveles, Nelly; Moran-Moguel, Cristina; Thavanati, Pavarthi K.R.; Ramirez-Garcia, Sergio; Sanchez-Corona, Jose Less Clinical Dysmorphology. 20(1):32-37, January 2011. Abstract Abstract Favorite PDF Permissions Buy
Co-occurrence of rhabdomyosarcoma and Mowat–Wilson syndrome: is there a connection? Rogac, Mihael; Kitanovski, Lidija; Writzl, Karin Rogac, Mihael; Kitanovski, Lidija; Writzl, Karin Less Clinical Dysmorphology. 26(3):185-186, July 2017. Favorite PDF Permissions Buy
A novel FBN2 mutation in a Turkish case with congenital contractural arachnodactyly Gürler, Abdullah I.; Yüksel, Zafer; Karaer, Kadri Gürler, Abdullah I.; Yüksel, Zafer; Karaer, Kadri Less Clinical Dysmorphology. 27(3):109-111, July 2018. Favorite PDF Permissions Buy
A very rare skeletal dysplasia: spondyloepimetaphyseal dysplasia, sponastrime type Kalaoglu, Elif Ece; Turkyilmaz, Ayberk; Geckinli, Bilgen Bilge; More Kalaoglu, Elif Ece; Turkyilmaz, Ayberk; Geckinli, Bilgen Bilge; Arslan Ates, Esra; Mentes, Ali; Arman, Ahmet Less Clinical Dysmorphology. 30(3):150-153, July 2021. Favorite PDF Permissions Buy
Mutations and new polymorphic changes in the TCOF1 gene of patients with oculo–auriculo–vertebral spectrum and Treacher–Collins syndrome Su, Pen-Hua; Yu, Ju-Shan; Chen, Jia-Yuh; More Su, Pen-Hua; Yu, Ju-Shan; Chen, Jia-Yuh; Chen, Suh-Jen; Li, Shuan-Yow; Chen, Hsiao-Neng Less Clinical Dysmorphology. 16(4):261-267, October 2007. Abstract Abstract Favorite PDF Permissions Buy
Homozygous missense STRADA mutation in a patient with polyhydramnios, megalencephaly and symptomatic epilepsy syndrome Aerden, Mio; Vallaeys, Lore; Holvoet, Maureen; More Aerden, Mio; Vallaeys, Lore; Holvoet, Maureen; De Waele, Liesbeth; Van Den Bogaert, Kris; Devriendt, Koen Less Clinical Dysmorphology. 30(3):121-124, July 2021. Abstract Abstract Favorite PDF Permissions Buy
Metaphyseal dysplasia, Spahr type; missense MMP13 mutations in two Iraqi siblings Tadros, Shereen; Scott, Richard H.; Calder, Alistair D.; More Tadros, Shereen; Scott, Richard H.; Calder, Alistair D.; Hurst, Jane A. Less Clinical Dysmorphology. 26(1):13-17, January 2017. Abstract Abstract Favorite PDF Permissions Buy
Novel mutation in MASP1 gene in a new family with 3MC syndrome Basdemirci, Muserref; Sen, Askin; Ceylaner, Serdar Basdemirci, Muserref; Sen, Askin; Ceylaner, Serdar Less Clinical Dysmorphology. 28(2):91-93, April 2019. Favorite PDF Permissions Buy
Identification of a novel variant of SCARF2 in a Jordanian family with a van den Ende-Gupta Syndrome and literature review Odeh, Osama; Barqawi, Tawfiq; Rashid, Hussein; More Odeh, Osama; Barqawi, Tawfiq; Rashid, Hussein; Almashhdi, Safa; Shboul, Mohammad Less Clinical Dysmorphology. 31(3):157-161, July 2022. Favorite PDF Permissions Buy
A report of gonadal mosaicism in DHX30-related neurodevelopmental disorder Cross, Laura A.; McWalter, Kirsty; Keller-Ramey, Jennifer; More Cross, Laura A.; McWalter, Kirsty; Keller-Ramey, Jennifer; Henderson, Lindsay B.; Amudhavalli, Shivarajan M. Less Clinical Dysmorphology. 29(3):161-164, July 2020. Favorite PDF Permissions Buy
Desbuquois dysplasia Kim variant: a rare case report syndrome Agrawal, Neha; Srivastava, Priyanka; Phadke, Shubha R. Agrawal, Neha; Srivastava, Priyanka; Phadke, Shubha R. Less Clinical Dysmorphology. 30(1):62-65, January 2021. Favorite PDF Permissions Buy
A case of septo-optic dysplasia with hereditary hemorrhagic telangiectasia: a previously unrecognized combination of malformations Kawano-Matsuda, Fumika; Shimada, Yumi; Omotobara-Yabe, Tomona; More Kawano-Matsuda, Fumika; Shimada, Yumi; Omotobara-Yabe, Tomona; Itonaga, Tomoyo; Maeda, Miwako; Maeda, Tomoki; Yamaguchi, Tomomi; Kosho, Tomoki; Ihara, Kenji Less Clinical Dysmorphology. 29(1):49-52, January 2020. Favorite PDF Permissions Buy
Rubinstein–Taybi syndrome type 2: report of nine new cases that extend the phenotypic and genotypic spectrum Hamilton, Mark J.; Newbury-Ecob, Ruth; Holder-Espinasse, Muriel; More Hamilton, Mark J.; Newbury-Ecob, Ruth; Holder-Espinasse, Muriel; Yau, Shu; Lillis, Suzanne; Hurst, Jane A.; Clement, Emma; Reardon, William; Joss, Shelagh; Hobson, Emma; Blyth, Moira; Al-Shehhi, Maryam; Lynch, Sally A.; Suri, Mohnish; DDD Study Less Clinical Dysmorphology. 25(4):135-145, October 2016. Abstract Abstract Favorite PDF Permissions Buy
A child with congenital short gut associated with DYNC2LI1 ciliopathy Bryson, Lisa J.; Flynn, Diana M.; Sabharwal, Atul; More Bryson, Lisa J.; Flynn, Diana M.; Sabharwal, Atul; Ahmed, Syed F.; Kinning, Esther Less Clinical Dysmorphology. 30(1):66-68, January 2021. Favorite PDF Permissions Buy
