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Article

CHD7 mutations are not a major cause of atrioventricular septal and conotruncal heart defects.

American journal of medical genetics. Part A - 1 Dec 2014

Corsten-Janssen Nicole, du Marchie Sarvaas Gideon J, Kerstjens-Frederikse Wilhelmina S, Hoefsloot Lies H, van Beynum Ingrid M, Kapusta Livia, van Ravenswaaij-Arts Conny M A

Abstract excerpt

Since 2004, CHD7 mutations have been a known cause of CHARGE (Coloboma, Heart defects, Atresia of choane, Retardation of growth and development, Genital hypoplasia, Ear anomalies) syndrome, but the full clinical spectrum of CHD7 mutations is only now gradually emerging. CHD7 mutations have been identified in patients who do not fulfill the clinical criteria for CHARGE syndrome and in patients with overlapping...

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Identifiers

PMID: 25257999
DOI: 10.1002/ajmg.a.36747

Genes

CHD7

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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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CHD7 mutations are not a major cause of atrioventricular septal and conotruncal heart defects.PMID 25257999Read ↗

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