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Article

CHARGE syndrome.

Orphanet journal of rare diseases - 7 Sept 2006

Blake Kim D, Prasad Chitra

Abstract excerpt

CHARGE syndrome was initially defined as a non-random association of anomalies (Coloboma, Heart defect, Atresia choanae, Retarded growth and development, Genital hypoplasia, Ear anomalies/deafness). In 1998, an expert group defined the major (the classical 4C's: Choanal atresia, Coloboma, Characteristic ears and Cranial nerve anomalies) and minor criteria of CHARGE syndrome. Individuals with all four major...

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Source

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Identifiers

PMID: 16959034
DOI: 10.1186/1750-1172-1-34
PMCID: PMC1586184

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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