A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3

Early B cell factor 3 (EBF3) is a member of the highly evolutionarily conserved Collier/Olf/EBF (COE) family of transcription factors. Prior studies on invertebrate and vertebrate animals have shown that EBF3 homologs are essential for survival and that loss-of-function mutations are associated with...

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Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:Am J Hum Genet
Egile Nagusiak: Chao, Hsiao-Tuan, Davids, Mariska, Burke, Elizabeth, Pappas, John G., Rosenfeld, Jill A., McCarty, Alexandra J., Davis, Taylor, Wolfe, Lynne, Toro, Camilo, Tifft, Cynthia, Xia, Fan, Stong, Nicholas, Johnson, Travis K., Warr, Coral G., Yamamoto, Shinya, Adams, David R., Markello, Thomas C., Gahl, William A., Bellen, Hugo J., Wangler, Michael F., Malicdan, May Christine V.
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: Elsevier 2017
Gaiak:
Report
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC5223093/
https://ncbi.nlm.nih.gov/pubmed/28017372
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2016.11.018
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