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

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 the X-chr...

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Detalhes bibliográficos
Publicado no:Mol Autism
Main Authors: Woodbury-Smith, Marc, Deneault, Eric, Yuen, Ryan K. C., Walker, Susan, Zarrei, Mehdi, Pellecchia, Giovanna, Howe, Jennifer L., Hoang, Ny, Uddin, Mohammed, Marshall, Christian R., Chrysler, Christina, Thompson, Ann, Szatmari, Peter, Scherer, Stephen W.
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2017
Assuntos:
Research
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5679329/
https://ncbi.nlm.nih.gov/pubmed/29152164
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13229-017-0175-3
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