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Article

Mutation update on the CHD7 gene involved in CHARGE syndrome.

Human mutation - 1 Aug 2012

Janssen Nicole, Bergman Jorieke E H, Swertz Morris A, Tranebjaerg Lisbeth, Lodahl Marianne, Schoots Jeroen, Hofstra Robert M W, van Ravenswaaij-Arts Conny M A, Hoefsloot Lies H

Abstract excerpt

CHD7 is a member of the chromodomain helicase DNA-binding (CHD) protein family that plays a role in transcription regulation by chromatin remodeling. Loss-of-function mutations in CHD7 are known to cause CHARGE syndrome, an autosomal-dominant malformation syndrome in which several organ systems, for example, the central nervous system, eye, ear, nose, and mediastinal organs, are variably involved. In this...

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Source

Identifiers

PMID: 22461308
DOI: 10.1002/humu.22086

Genes

CHD7

Provenance

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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