Article
Single-Cell Transcriptomics Supports a Role of CHD8 in Autism.
International journal of molecular sciences - 23 Mar 2021
Hoffmann Anke, Spengler Dietmar
Abstract excerpt
Chromodomain helicase domain 8 (CHD8) is one of the most frequently mutated and most penetrant genes in the autism spectrum disorder (ASD). Individuals with CHD8 mutations show leading symptoms of autism, macrocephaly, and facial dysmorphisms. The molecular and cellular mechanisms underpinning the early onset and development of these symptoms are still poorly understood and prevent timely and more efficient...
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