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Article

Limb anomalies in patients with CHARGE syndrome: an expansion of the phenotype.

American journal of medical genetics. Part A - 15 Nov 2007

Van de Laar Ingrid, Dooijes Dennis, Hoefsloot Lies, Simon Marleen, Hoogeboom Jeanette, Devriendt Koenraad

Abstract excerpt

CHARGE syndrome is characterized by a wide clinical variability. During the past years the phenotypic spectrum was markedly expanded. Limb anomalies were initially not recognized as part of the phenotype but more recently mild limb anomalies were described in approximately 30% of the patients. We report on three patients with several major features of CHARGE syndrome who, in addition, presented severe limb...

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Source

Identifiers

PMID: 17937444
DOI: 10.1002/ajmg.a.32008

Genes

CHD7

Provenance

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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