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Article

A de novo CHD3 variant in a child with intellectual disability, autism, joint laxity, and dysmorphisms.

Brain & development - 1 Apr 2021

Mizukami Miyako, Ishikawa Aki, Miyazaki Sachiko, Tsuzuki Akiko, Saito Sakae, Niihori Tetsuya, Sakurai Akihiro

Abstract excerpt

BACKGROUND: Chromodomain helicase DNA-binding (CHD) proteins play important roles in developmental processes. CHD3, a member of the CHD family of proteins, was reported to be a cause of a neurodevelopmental syndrome by Snijders Blok et al., but only a small number of probands have been reported. CASE REPORT: The patient was a 9-year-old female with severe intellectual disability, speech impairment, autism, joint...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 33358638
DOI: 10.1016/j.braindev.2020.12.004

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

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