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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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory Press 2016
Materias:
Research Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5002929/
https://www.ncbi.nlm.nih.gov/pubmed/27626064
http://dx.doi.org/10.1101/mcs.a000851

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5002929/
https://www.ncbi.nlm.nih.gov/pubmed/27626064
http://dx.doi.org/10.1101/mcs.a000851

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