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Article

Genetic aspects of supravalvular aortic stenosis.

Current opinion in cardiology - 1 May 1998

Morris C A

Abstract excerpt

Supravalvular aortic stenosis (SVAS) occurs as an autosomal dominant trait or as part of the phenotype of the usually sporadic condition Williams syndrome. SVAS is the result of mutation or deletion of the elastin gene (ELN), located at chromosome 7q11.23. Thus, SVAS may be more appropriately termed an elastin arteriopathy. Studies have demonstrated various point mutations and intragenic deletions of ELN...

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PMID: 9649945

Genes

ELN

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Source receipt: pubmed, retrieved 7 Sept 2026.

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