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Article

[Familial supravalvular aortic stenosis. Investigation in a family and review of the literature].

Archives des maladies du coeur et des vaisseaux - 1 May 1997

Burnel P, Marçon F, Lucron H, Bosser G, Gilgenkrantz S, Jonveaux P, Chéry M, Worms A M

Abstract excerpt

Familial supravalvular aortic stenosis is a rare autosomal dominant condition. It may be distinguished from the Williams-Beuren syndrome by the absence of the characteristic dysmorphic appearances and of mental retardation. The case of a 9-year-old girl with a severe surgical stenosis led to the diagnosis of the same malformation in the mother and two brothers. This family adds to the 121 cases reported in the...

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Identifiers

PMID: 9295957

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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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