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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...

Whakaahuatanga katoa

I tiakina i:
Ngā kaituhi matua: 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
Hōputu: Artigo
Reo:Inglês
I whakaputaina: BMC 2017-11-01
Rangatū:Molecular Autism
Ngā marau:
RAB39B
Intellectual disability (ID)
RNAseq
Whole genome sequencing (WGS)
Urunga tuihono:http://link.springer.com/article/10.1186/s13229-017-0175-3
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