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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Detaylı Bibliyografya
Yayımlandı:Am J Hum Genet
Asıl Yazarlar: 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.
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Elsevier 2019
Konular:
Report
Online Erişim: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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