Chromosome 1q31.2q32.1 deletion in an adult male with intellectual disability, dysmorphic features and obesity Hyder, Zerin; Fairclough, Adele; Douzgou, Sofia Hyder, Zerin; Fairclough, Adele; Douzgou, Sofia Less Clinical Dysmorphology. ., Post Author Corrections: April 30, 2019 Abstract Abstract Favorites PDF Get Content & Permissions Abstract: Buy PAP
A novel Ser40Trp variant in IFITM5 in a family with osteogenesis imperfecta and review of the literature Lim, Jiin Ying; Bhatia, Neha; Vasanwala, Rashida Farhad; More Lim, Jiin Ying; Bhatia, Neha; Vasanwala, Rashida Farhad; Chay, Pui Ling; Lim, Kevin Boon Leong; Khoo, Poh Choo; Schwarze, Ulrike; Jamuar, Saumya Shekhar Less Clinical Dysmorphology. ., Post Author Corrections: April 10, 2019 Abstract Abstract Favorites PDF Get Content & Permissions Abstract: Buy PAP
Microdeletion of the entire IRF6 gene in a Subsaharian African’s family with Van der Woude syndrome Mbuyi-Musanzayi, Sébastien; Kasamba, Eric I.; Revencu, Nicole; More Mbuyi-Musanzayi, Sébastien; Kasamba, Eric I.; Revencu, Nicole; Lukusa, Prosper T.; Kalenga, Prosper M.; Tshilombo, François K.; Reychler, Hervé; Devriendt, Koenraad Less Clinical Dysmorphology. ., Post Author Corrections: April 02, 2019 Abstract Abstract Favorites PDF Get Content & Permissions Abstract: Buy PAP
Novel variant in HDAC8 gene resulting in the severe Cornelia de Lange phenotype Aleksandra, Jezela-Stanek; Murcia, Victor; Dorota, Jurkiewicz; More Aleksandra, Jezela-Stanek; Murcia, Victor; Dorota, Jurkiewicz; Katarzyna, Iwanicka-Pronicka; Maria, Jedrzejowska; Malgorzata, Krajewska-Walasek; Rafal, Ploski Less Clinical Dysmorphology. ., Post Author Corrections: March 26, 2019 Abstract Abstract Favorites PDF Get Content & Permissions Abstract: Buy PAP
Cardiac disorders and structural brain abnormalities are commonly associated with hypospadias in children with neurodevelopmental disorders Gazdagh, Gabriella E.; Wang, Cunyi; McGowan, Ruth; More Gazdagh, Gabriella E.; Wang, Cunyi; McGowan, Ruth; Tobias, Edward S.; Ahmed, S. Faisal; DDD Study Less Clinical Dysmorphology. ., Post Author Corrections: March 26, 2019 Abstract Abstract Favorites PDF Get Content & Permissions Abstract: Buy PAP
Phenotypic heterogeneity of kyphoscoliosis with vertebral and rib defects: a case series Panigrahi, Inusha; Angurana, Suresh Kumar; Varma, Harish; More Panigrahi, Inusha; Angurana, Suresh Kumar; Varma, Harish; Peyum Pandurangam, Srinivasan; Williams, Vijai; Thappa, Surjeet; Kaur, Anupriya; Khandelwal, Niranjan Less Clinical Dysmorphology. ., Post Author Corrections: March 26, 2019 Abstract Abstract Favorites PDF Get Content & Permissions Abstract: Buy PAP
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. ., Post Author Corrections: February 14, 2019 Abstract Abstract Favorites PDF Get Content & Permissions Abstract: Go to Full Text of this Article Open PAP
Dual diagnosis causing severe phenotype in a patient with Angelman syndrome Kanani, Farah; Mordekar, Santosh; Parker, Michael J.; More Kanani, Farah; Mordekar, Santosh; Parker, Michael J.; Balasubramanian, Meena; DDD Study Less Clinical Dysmorphology. ., Post Author Corrections: April 15, 2019 Favorites PDF Get Content & Permissions Buy PAP
Phenotypic delineation of a 12q21 deletion syndrome McKenna, Caoimhe S.; Saxena, Nivedita; Dabir, Tabib A; More McKenna, Caoimhe S.; Saxena, Nivedita; Dabir, Tabib A; Jones, June; Smith, Geoff; Morrison, Patrick J Less Clinical Dysmorphology. ., Post Author Corrections: April 10, 2019 Favorites PDF Get Content & Permissions Buy PAP
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. ., Post Author Corrections: April 02, 2019 Favorites PDF Get Content & Permissions Buy PAP
Fetal aortopulmonary window associated with urorectal malformation and common cloaca Gowda, Mamatha; Reddy, Monica; Ramesh, Devika; More Gowda, Mamatha; Reddy, Monica; Ramesh, Devika; Prasad, Srivatsa Less Clinical Dysmorphology. ., Post Author Corrections: March 28, 2019 Favorites PDF Get Content & Permissions Buy PAP
Phenotypic description of two adult brothers presenting with mild form of Smith–Lemli–Opitz syndrome Olech, Ewelina M.; Matuszewska, Karolina; Piechota, Michal; More Olech, Ewelina M.; Matuszewska, Karolina; Piechota, Michal; Latos-Bielenska, Anna; Jamsheer, Aleksander Less Clinical Dysmorphology. ., Post Author Corrections: March 28, 2019 Favorites PDF Get Content & Permissions Buy PAP
Tissue-specific mosaicism in a patient with Rubinstein–Taybi syndrome and CREBBP exon 1 duplication Gucev, Zoran S.; Tasic, Velibor B.; Saveski, Aleksandar; More Gucev, Zoran S.; Tasic, Velibor B.; Saveski, Aleksandar; Polenakovic, Momir H.; Laban, Nevenka B.; Zechner, Ulrich; Bartsch, Oliver Less Clinical Dysmorphology. ., Post Author Corrections: March 26, 2019 Favorites PDF Get Content & Permissions Buy PAP
Unusual association of Mayer–Rokitansky–Küster–Hauser and Sotos syndromes: a case report Cattoni, Alessandro; Albanese, Assunta; Tatton-Brown, Katrina Cattoni, Alessandro; Albanese, Assunta; Tatton-Brown, Katrina Less Clinical Dysmorphology. ., Post Author Corrections: March 26, 2019 Favorites PDF Get Content & Permissions Buy PAP
A novel pathogenic frameshift variant of KAT6B identified by clinical exome sequencing in a newborn with the Say–Barber–Biesecker–Young–Simpson syndrome Mendez, Rodrigo; Delea, Marisol; Dain, Liliana; More Mendez, Rodrigo; Delea, Marisol; Dain, Liliana; Rittler, Monica Less Clinical Dysmorphology. ., Post Author Corrections: March 26, 2019 Favorites PDF Get Content & Permissions Buy PAP
Prenatal presentation in a patient with Baraitser-Winter cerebrofrontofacial syndrome and a novel ACTB variant Aiyar, Lila; Stumbaugh, Tammy; Hirata, Greigh I.; More Aiyar, Lila; Stumbaugh, Tammy; Hirata, Greigh I.; Chen, Bruce; Lau, Helen L.; Wallerstein, Robert J. Less Clinical Dysmorphology. ., Post Author Corrections: March 26, 2019 Favorites PDF Get Content & Permissions Buy PAP
Expanding the phenotype of Filippi Syndrome: a patient with early onset puberty Sabir, Ataf; Walker, Jessica K.; Hart, Rachel Sabir, Ataf; Walker, Jessica K.; Hart, Rachel Less Clinical Dysmorphology. ., Post Author Corrections: March 26, 2019 Favorites PDF Get Content & Permissions Buy PAP
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. ., Post Author Corrections: March 26, 2019 Favorites PDF Get Content & Permissions Buy PAP
Further delineation of DDX3X syndrome Chanes, Nicolas M.; Wong, Joaquin; Lacassie, Yves Chanes, Nicolas M.; Wong, Joaquin; Lacassie, Yves Less Clinical Dysmorphology. ., Post Author Corrections: February 26, 2019 Favorites PDF Get Content & Permissions Buy PAP
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. ., Post Author Corrections: March 26, 2019 Favorites PDF Get Content & Permissions Buy SDC PAP
