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Article

[The CHARGE syndrome].

Tidsskrift for den Norske laegeforening : tidsskrift for praktisk medicin, ny raekke - 12 Jun 2008

Klingenberg Claus, Andersen Wenche Helene

Abstract excerpt

BACKGROUND: CHARGE syndrome is a rare congenital condition with multiple malformations. The acronym CHARGE summarizes six cardinal features: Coloboma, Heart defect, Atresia choanae, Retarded growth and development, Genital anomalies and Ear anomalies/deafness. Our aim is to present an update on clinical presentation, genetics and behavioural aspects in the CHARGE syndrome. Furthermore, we give recommendations...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 18552902

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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Phenotype and genotype analysis of a French cohort of 119 patients with CHARGE syndrome.Semantic proximity Read ↗

Cleft Lip and Palate in CHARGE Syndrome: Phenotypic Features That Influence Management.Semantic proximity Read ↗

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

["CHARGE" association].Semantic proximity Read ↗

CHARGE syndrome: genetic aspects and dental challenges, a review and case presentationSemantic proximity Read ↗

[CHARGE syndrome in children with congenital choanal atresia].Semantic proximity Read ↗

Genetic counseling in CHARGE syndrome: Diagnostic evaluation through follow up.Semantic proximity Read ↗

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