Clinical Phenotypes of Carriers of Mutations in CHD8 or Its Conserved Target Genes
Abstract
Background Variants disruptive to CHD8 (which codes for the protein CHD8 [chromodomain-helicase-DNA-binding protein 8]) are among the most common mutations revealed by exome sequencing in autism spectrum disorder (ASD). Recent work has indicated that CHD8 plays a role in the regulation of other ASD-risk genes. However, it is unclear whether a possible shared genetic ontology extends to the phenotype. Methods This study (N = 143; 42.7% female...
Paper Details
Title
Clinical Phenotypes of Carriers of Mutations in CHD8 or Its Conserved Target Genes
Published Date
Jan 1, 2020
Journal
Volume
87
Issue
2
Pages
123 - 131
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