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Article

Vocal cord abnormalities in Williams syndrome: a further manifestation of elastin deficiency.

American journal of medical genetics. Part A - 15 Jun 2003

Vaux Keith K, Wojtczak Henry, Benirschke Kurt, Jones Kenneth Lyons

Abstract excerpt

Williams syndrome (WS) is due to a deletion in the WS critical region at 7q11.23 which includes the elastin gene (ELN). One of the most characteristic features of this disorder is a harsh, brassy, or hoarse voice but the etiology of the vocal characteristics are unknown. We report two patients with WS who had bilateral vocal cord abnormalities, bringing to four the number of children with WS in whom such defects...

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Source

Identifiers

PMID: 12784297
DOI: 10.1002/ajmg.a.20169

Genes

ELN

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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Strong correlation of elastin deletions, detected by FISH, with Williams syndrome: evaluation of 235 patients.Semantic proximity Read ↗

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