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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| Publicado no: | J Clin Invest |
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| Principais autores: | , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
American Society for Clinical Investigation
1994
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| Assuntos: | |
| Acesso em linha: | 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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