A novel mutation in MYCN gene causing congenital absence of the flexor pollicis longus tendon as an unusual presentation of Feingold syndrome 1 Peleg, Amir; Kurolap, Alina; Sagi-Dain, Lena; More Peleg, Amir; Kurolap, Alina; Sagi-Dain, Lena; Larom-Khan, G.; Adir, V.; Mory, Adi; Paperna, Tamar; Shuldiner, A.R.; Gonzaga-Jauregui, C.; Adir, Noam; Baris Feldman, Hagit; Wollstein, R. Less Clinical Dysmorphology. 30(2):71-75, April 2021. Abstract Abstract Favorites PDF Get Content & Permissions Buy SDC
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; Mlynek, Marlena; More Jezela-Stanek, Aleksandra; Pokora, Paulina; Mlynek, Marlena; Smyk, Marta; Ziemkiewicz, Kamila; Rózdzynska-Swiatkowska, Agnieszka; Tylki-Szymanska, Anna Less Clinical Dysmorphology. 30(2):76-82, April 2021. Abstract Abstract Favorites PDF Get Content & Permissions Buy SDC
Heterozygous intragenic deletions of FREM1 are not associated with trigonocephaly Dawson, Angelika J.; Hovanes, Karine; Liu, Jing; More Dawson, Angelika J.; Hovanes, Karine; Liu, Jing; Marles, Sandra; Greenberg, Cheryl; Mhanni, Aziz; Chudley, Albert; Frosk, Patrick; Sahoo, Trilochan; Schanze, Denny; Zenker, Martin Less Clinical Dysmorphology. 30(2):83-88, April 2021. Abstract Abstract Favorites PDF Get Content & Permissions Buy
Chromosome 4q28.3q32.3 duplication in a patient with lymphatic malformations, craniosynostosis, and dysmorphic features Traub, Eric S.; Sheppard, Sarah E.; Dori, Yoav; More Traub, Eric S.; Sheppard, Sarah E.; Dori, Yoav; Burns, Katelyn D.; Zackai, Elaine H.; Ware, Stephanie M.; Landis, Benjamin J.; Li, Dong; Weaver, David D. Less Clinical Dysmorphology. 30(2):89-92, April 2021. Favorites PDF Get Content & Permissions Buy
Association of mutation in PTPN14 gene and gingival fibromatosis with distinctive facies: a novel finding in whole exome sequencing Cogulu, Ozgur; Mojarrab, Neda; Simsir, Ozguc S.; More Cogulu, Ozgur; Mojarrab, Neda; Simsir, Ozguc S.; Durmaz, Asude; Aykut, Ayca; Cogulu, Dilsah Less Clinical Dysmorphology. 30(2):93-99, April 2021. Abstract Abstract Favorites PDF Get Content & Permissions Buy
Distal arthrogryposis type 5D in a South Indian family caused by novel deletion in ECEL1 gene Gowda, Mamatha; Mohan, Shruthi; Ramesh, Devika; More Gowda, Mamatha; Mohan, Shruthi; Ramesh, Devika; Chinta, Navya Less Clinical Dysmorphology. 30(2):100-103, April 2021. Abstract Abstract Favorites PDF Get Content & Permissions Buy
X-linked BCOR-related syndrome in two male siblings Archer, Nicole E.; Mercer, Leanne; Goobie, Sharan; More Archer, Nicole E.; Mercer, Leanne; Goobie, Sharan; Velsher, Lea; Colaiacovo, Samantha; Prasad, Chitra Less Clinical Dysmorphology. 30(2):104-109, April 2021. Favorites PDF Get Content & 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. Favorites PDF Get Content & Permissions Buy
A second report of recessive type COL4A1-related disorder: a novel homozygous missense variant Sabir, Ataf H.; Singh, Ananya; Elley, George; More Sabir, Ataf H.; Singh, Ananya; Elley, George; Wassemer, Evangeline; Foster, Katharine; Sloman, Melissa; Lim, Derek Less Clinical Dysmorphology. 30(2):115-119, April 2021. Favorites PDF Get Content & Permissions Buy
