Mutations in RAB39B in individuals with intellectual disability, autism spectrum disorder, and macrocephaly
نویسندگان
چکیده
منابع مشابه
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-chromosome gene RAB39B segregates with ASD phenotype. Methods Clinical phenotyping, microarray, and...
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ژورنال
عنوان ژورنال: Molecular Autism
سال: 2017
ISSN: 2040-2392
DOI: 10.1186/s13229-017-0175-3