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Article

A family with a new elastin gene mutation: broad clinical spectrum, including sudden cardiac death.

Cardiology in the young - 1 Feb 2011

Jakob André, Unger Sheila, Arnold Raoul, Grohmann Jochen, Kraus Cornelia, Schlensak Christian, Stiller Brigitte

Abstract excerpt

Supravalvular aortic stenosis is associated with the Williams-Beuren syndrome, but it also occurs in a non-syndromatic congenital form. An elastin gene mutation of chromosome 7q11.23 is responsible in both cases. The vascular features are identical. These patients have a higher risk of sudden death, particularly when undergoing diagnostic or surgical procedures. We report the account of a family with a new...

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Source

Identifiers

PMID: 21080980
DOI: 10.1017/S1047951110001563

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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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