De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia

WD40 repeat-containing proteins form a large family of proteins present in all eukaryotes. Here, we identified five pediatric probands with de novo variants in WDR37, which encodes a member of the WD40 repeat protein family. Two probands shared one variant and the others have variants in nearby amin...

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Publicat a:Am J Hum Genet
Autors principals: Kanca, Oguz, Andrews, Jonathan C., Lee, Pei-Tseng, Patel, Chirag, Braddock, Stephen R., Slavotinek, Anne M., Cohen, Julie S., Gubbels, Cynthia S., Aldinger, Kimberly A., Williams, Judy, Indaram, Maanasa, Fatemi, Ali, Yu, Timothy W., Agrawal, Pankaj B., Vezina, Gilbert, Simons, Cas, Crawford, Joanna, Lau, C. Christopher, Chung, Wendy K., Markello, Thomas C., Dobyns, William B., Adams, David R., Gahl, William A., Wangler, Michael F., Yamamoto, Shinya, Bellen, Hugo J., Malicdan, May Christine V.
Format: Artigo
Idioma:Inglês
Publicat: Elsevier 2019
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Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC6699142/
https://ncbi.nlm.nih.gov/pubmed/31327508
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2019.06.014
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