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OTUD7A Regulates Neurodevelopmental Phenotypes in...
Journal article

OTUD7A Regulates Neurodevelopmental Phenotypes in the 15q13.3 Microdeletion Syndrome

Abstract

Copy-number variations (CNVs) are strong risk factors for neurodevelopmental and psychiatric disorders. The 15q13.3 microdeletion syndrome region contains up to ten genes and is associated with numerous conditions, including autism spectrum disorder (ASD), epilepsy, schizophrenia, and intellectual disability; however, the mechanisms underlying the pathogenesis of 15q13.3 microdeletion syndrome remain unknown. We combined whole-genome …

Authors

Uddin M; Unda BK; Kwan V; Holzapfel NT; White SH; Chalil L; Woodbury-Smith M; Ho KS; Harward E; Murtaza N

Journal

American Journal of Human Genetics, Vol. 102, No. 2, pp. 278–295

Publisher

Elsevier

Publication Date

February 2018

DOI

10.1016/j.ajhg.2018.01.006

ISSN

0002-9297