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Article

CHARGE syndrome in nine patients from China.

American journal of medical genetics. Part A - 1 Jan 2020

Cheng Shirley S W, Luk Ho-Ming, Chan David K H, Lo Ivan F M

Abstract excerpt

CHARGE syndrome (CS) is a multiple congenital anomalies condition with the majority of cases caused by dominant loss-of-function mutations of the CHD7 gene. It is clinically characterized by coloboma of the eyes, heart defects, choanal atresia, retardation of growth and/or development, genital and/or urinary anomalies and ear malformations associated with deafness and vestibular disorder(s). This case series...

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Identifiers

PMID: 31729160
DOI: 10.1002/ajmg.a.61398

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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.Semantic proximity Read ↗

Identification of three novel mutations in the CHD7 gene in patients with clinical signs of typical or atypical CHARGE syndrome.Semantic proximity Read ↗

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CHARGE syndrome in the era of molecular diagnosis: Similar outcomes in those without coloboma or choanal atresia.Semantic proximity Read ↗

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