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Article

Genetic analysis of CHARGE syndrome identifies overlapping molecular biology.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Sept 2018

Moccia Amanda, Srivastava Anshika, Skidmore Jennifer M, Bernat John A, Wheeler Marsha, Chong Jessica X, Nickerson Deborah, Bamshad Michael, Hefner Margaret A, Martin Donna M, Bielas Stephanie L

Abstract excerpt

PURPOSE: CHARGE syndrome is an autosomal-dominant, multiple congenital anomaly condition characterized by vision and hearing loss, congenital heart disease, and malformations of craniofacial and other structures. Pathogenic variants in CHD7, encoding adenosine triphosphate-dependent chromodomain helicase DNA binding protein 7, are present in the majority of affected individuals. However, no causal variant can be...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to E1A-Associated p300 Protein

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Source

Open in PubMed Open full text

Identifiers

PMID: 29300383
DOI: 10.1038/gim.2017.233
PMCID: PMC6034995

Genes

CHD7
PUF60

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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Genetic analysis of CHARGE syndrome identifies overlapping molecular biology.PMID 29300383Read ↗

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