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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Detalles Bibliográficos
Autores principales: Sugiyama, Kaori, Horigome, Hitoshi, Lin, Lisheng, Murakami, Takashi, Shiono, Junko, Yamashiro, Yoshito, Matsuura, Hiroyuki, Yoda, Hitoshi, Yanagisawa, Hiromi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2019
Materias:
Clinical Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6825854/
https://www.ncbi.nlm.nih.gov/pubmed/31560829
http://dx.doi.org/10.1002/mgg3.986

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