Mutations in USP9X Are Associated with X-Linked Intellectual Disability and Disrupt Neuronal Cell Migration and Growth

With a wealth of disease-associated DNA variants being recently reported, the challenges of providing their functional characterization are mounting. Previously, as part of a large systematic resequencing of the X chromosome in 208 unrelated families with nonsyndromic X-linked intellectual disabilit...

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Main Authors: Homan, Claire C., Kumar, Raman, Nguyen, Lam Son, Haan, Eric, Raymond, F. Lucy, Abidi, Fatima, Raynaud, Martine, Schwartz, Charles E., Wood, Stephen A., Gecz, Jozef, Jolly, Lachlan A.
Formato: Artigo
Idioma:Inglês
Publicado: Elsevier 2014
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Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC3951929/
https://ncbi.nlm.nih.gov/pubmed/24607389
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2014.02.004
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