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...

पूर्ण विवरण

में बचाया:
ग्रंथसूची विवरण
में प्रकाशित:Am J Hum Genet
मुख्य लेखकों: 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.
स्वरूप: Artigo
भाषा:Inglês
प्रकाशित: Elsevier 2017
विषय:
Report
ऑनलाइन पहुंच: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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