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Article

A severe neurocognitive phenotype caused by biallelic CHD3 variants in two siblings.

American journal of medical genetics. Part A - 1 Apr 2024

Goldfarb Yaacobi Racheli, Sukenik Halevy Rivka

Abstract excerpt

CHD3 heterozygous variants are associated with Snijders Blok-Campeau syndrome (SBCS) which consists of intellectual disability (ID), macrocephaly, and dysmorphic facies. Most reported variants are missense or loss of function clustered within the ATPase/helicase domain of the protein. We report a severe neurocognitive phenotype caused by biallelic CHD3 variants in two siblings, each inherited from a mildly...

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Identifiers

PMID: 38116750
DOI: 10.1002/ajmg.a.63503

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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A severe neurocognitive phenotype caused by biallelic CHD3 variants in two siblings.PMID 38116750Read ↗

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