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

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 d...

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Pubblicato in:	J Clin Invest
Autori principali:	Ewart, A K, Jin, W, Atkinson, D, Morris, C A, Keating, M T
Natura:	Artigo
Lingua:	Inglês
Pubblicazione:	American Society for Clinical Investigation 1994
Soggetti:	Research Article
Accesso online:	https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC294040/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/8132745/ https://ncbi.nlm.nih.govhttps://doi.org/10.1172/JCI117057
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