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...

Disgrifiad llawn

Manylion Llyfryddiaeth

Prif Awduron:	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
Fformat:	Artigo
Iaith:	Inglês
Cyhoeddwyd:	BMC 2017-11-01
Cyfres:	Molecular Autism
Pynciau:	RAB39B Intellectual disability (ID) RNAseq Whole genome sequencing (WGS)
Mynediad Ar-lein:	http://link.springer.com/article/10.1186/s13229-017-0175-3
Tagiau:	Ychwanegu Tag Dim Tagiau, Byddwch y cyntaf i dagio'r cofnod hwn!