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Article

CHD7 mutations causing CHARGE syndrome are predominantly of paternal origin.

Clinical genetics - 1 Mar 2012

Pauli S, von Velsen N, Burfeind P, Steckel M, Mänz J, Buchholz A, Borozdin W, Kohlhase J

Abstract excerpt

CHARGE (coloboma, heart defects, atresia of the choanae, retarded growth and development, genital hypoplasia, ear anomalies and deafness) syndrome is a congenital malformation syndrome caused by mutations in the CHD7 gene in approximately 2/3 of cases. In the vast majority of cases, CHARGE syndrome is sporadic. There are only a few reports of parent-to-child transmission and somatic or gonadal mosaicism. To...

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Source

Identifiers

PMID: 21554267
DOI: 10.1111/j.1399-0004.2011.01701.x

Genes

CHD7

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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CHARGE syndrome: an update.Semantic proximity Read ↗

Phenotypic spectrum of CHARGE syndrome with CHD7 mutations.Semantic proximity Read ↗

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Molecular and phenotypic aspects of CHD7 mutation in CHARGE syndrome.Semantic proximity Read ↗

CHARGE syndrome: a review.Semantic proximity Read ↗

CHARGE syndrome and CHD7 gene mutation.Semantic proximity Read ↗

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