Article
Gene discoveries in autism are biased towards comorbidity with intellectual disability.
Journal of medical genetics - 1 Sept 2020
Jensen Matthew, Smolen Corrine, Girirajan Santhosh
Abstract excerpt
BACKGROUND: Autism typically presents with highly heterogeneous features, including frequent comorbidity with intellectual disability (ID). The overlap between these phenotypes has confounded the diagnosis and discovery of genetic factors associated with autism. We analysed pathogenic de novo genetic variants in individuals with autism who had either ID or normal cognitive function to determine whether genes...
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