Mutations in RAB39B in individuals with intellectual disability, autism spectrum disorder, and macrocephaly

Mutations in RAB39B in individuals with intellectual disability, autism spectrum disorder, and macrocephaly

Abstract Background Autism spectrum disorder (ASD), a developmental disorder of early childhood onset, affects males four times more frequently than females, suggesting a role for the sex chromosomes. In this study, we describe a family with ASD in which a predicted pathogenic nonsense mutation in t...

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Bibliographic Details
Main Authors: Marc Woodbury-Smith, Eric Deneault, Ryan K. C. Yuen, Susan Walker, Mehdi Zarrei, Giovanna Pellecchia, Jennifer L. Howe, Ny Hoang, Mohammed Uddin, Christian R. Marshall, Christina Chrysler, Ann Thompson, Peter Szatmari, Stephen W. Scherer
Format: Article
Language:English
Published: BMC 2017-11-01
Series:Molecular Autism
Subjects:
RAB39B
Intellectual disability (ID)
RNAseq
Whole genome sequencing (WGS)
Online Access:http://link.springer.com/article/10.1186/s13229-017-0175-3

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http://link.springer.com/article/10.1186/s13229-017-0175-3

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