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Article

Clinical and molecular effects of CHD7 in the heart.

American journal of medical genetics. Part C, Seminars in medical genetics - 1 Dec 2017

Corsten-Janssen Nicole, Scambler Peter J

Abstract excerpt

Heart defects caused by loss-of-function mutations in CHD7 are a frequent cause of morbidity and mortality in CHARGE syndrome. Here we review the clinical and molecular aspects of CHD7 that are related to the cardiovascular manifestations of the syndrome. The types of heart defects found in patients with CHD7 mutations are variable, with an overrepresentation of atrioventricular septal defect and outflow tract...

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Share to Bone Morphogenetic Proteins
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 29088513
DOI: 10.1002/ajmg.c.31590

Genes

CHD7
TBX1

Provenance

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

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Clinical and molecular effects of CHD7 in the heart.PMID 29088513Read ↗

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