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Article

An investigation of voice quality in individuals with inherited elastin gene abnormalities.

Clinical linguistics & phonetics - 1 Mar 2008

Watts Christopher R, Awan Shaheen N, Marler Jeffrey A

Abstract excerpt

The human elastin gene (ELN) is responsible for the generation of elastic fibres in the extracellular matrix of connective tissue throughout the body, including the vocal folds. Individuals with Supravalvular aortic stenosis (SVAS) and Williams syndrome (WS) lack one normal ELN allele due to heterozygous ELN abnormalities, resulting in a haploinsufficiency. We measured perceptual and acoustic characteristics of...

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Source

Identifiers

PMID: 18307085
DOI: 10.1080/02699200701803361

Genes

ELN

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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