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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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Udgivet i:J Clin Invest
Principais autores: Ewart, A K, Jin, W, Atkinson, D, Morris, C A, Keating, M T
Format: Artigo
Sprog:Inglês
Udgivet: American Society for Clinical Investigation 1994
Fag:
Research Article
Online adgang: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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