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Article

Supravalvular aortic stenosis associated with a deletion disrupting the elastin gene.

The Journal of clinical investigation - 1 Mar 1994

Ewart A K, Jin W, Atkinson D, Morris C A, Keating M T

Abstract excerpt

Supravalvular aortic stenosis (SVAS) is an inherited vascular disease that can cause heart failure and death. SVAS can be inherited as an autosomal dominant trait or as part of a developmental disorder, Williams syndrome (WS). In recent studies we presented evidence suggesting that a translocation disrupting the elastin gene caused SVAS in one family while deletions involving the entire elastin locus caused WS....

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Identifiers

PMID: 8132745
DOI: 10.1172/JCI117057
PMCID: PMC294040

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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