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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Bibliografski detalji
Izdano u:Cold Spring Harb Mol Case Stud
Glavni autori: 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
Format: Artigo
Jezik:Inglês
Izdano: Cold Spring Harbor Laboratory Press 2016
Teme:
Research Report
Online pristup: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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