A de novo missense mutation in ZMYND11 is associated with global developmental delay, seizures, and hypotonia

Recently, mutations in the zinc finger MYND-type containing 11 (ZMYND11) gene were identified in patients with autism spectrum disorders, intellectual disability, aggression, and complex neuropsychiatric features, supporting that this gene is implicated in 10p15.3 microdeletion syndrome. We report a...

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Опубликовано в: :Cold Spring Harb Mol Case Stud
Главные авторы: Moskowitz, Abby M., Belnap, Newell, Siniard, Ashley L., Szelinger, Szabolcs, Claasen, Ana M., Richholt, Ryan F., De Both, Matt, Corneveaux, Jason J., Balak, Chris, Piras, Ignazio S., Russell, Megan, Courtright, Amanda L., Rangasamy, Sampath, Ramsey, Keri, Craig, David W., Narayanan, Vinodh, Huentelman, Matt J., Schrauwen, Isabelle
Формат: Artigo
Язык:Inglês
Опубликовано: Cold Spring Harbor Laboratory Press 2016
Предметы:
Research Report
Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC5002929/
https://ncbi.nlm.nih.gov/pubmed/27626064
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1101/mcs.a000851
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