Novel ELN mutation in a Japanese family with a severe form of supravalvular aortic stenosis

BACKGROUND: Supravalvular aortic stenosis (SVAS) is one of the congenital cardiovascular diseases characterized by stenosis of the aorta. The stenotic lesions occur anywhere above the aortic valve in the aortic tree as well as pulmonary arteries and eventually leads to circulatory failure. The disea...

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Detalhes bibliográficos
Publicado no:Mol Genet Genomic Med
Main Authors: Sugiyama, Kaori, Horigome, Hitoshi, Lin, Lisheng, Murakami, Takashi, Shiono, Junko, Yamashiro, Yoshito, Matsuura, Hiroyuki, Yoda, Hitoshi, Yanagisawa, Hiromi
Formato: Artigo
Idioma:Inglês
Publicado em: John Wiley and Sons Inc. 2019
Assuntos:
Clinical Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6825854/
https://ncbi.nlm.nih.gov/pubmed/31560829
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.986
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