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Article

CHD8 intragenic deletion associated with autism spectrum disorder.

European journal of medical genetics - 1 Apr 2016

Stolerman Elliot S, Smith Brooke, Chaubey Alka, Jones Julie R

Abstract excerpt

Autism spectrum disorders (ASDs) are a heterogeneous group of neurodevelopmental disorders that are highly heritable. De novo genomic alterations are considered an important cause of autism spectrum disorders. Recent research has shown that de novo loss-of-function mutations in the chromodomain helicase DNA-binding protein 8 (CHD8) gene are associated with an increased risk of ASD. We describe a single case of an...

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Source

Identifiers

PMID: 26921529
DOI: 10.1016/j.ejmg.2016.02.010

Genes

CHD8

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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