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

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

Abstract 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. T...

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Bibliographic Details
Main Authors: Kaori Sugiyama, Hitoshi Horigome, Lisheng Lin, Takashi Murakami, Junko Shiono, Yoshito Yamashiro, Hiroyuki Matsuura, Hitoshi Yoda, Hiromi Yanagisawa
Format: Article
Language:English
Published: Wiley 2019-11-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
ELN
modifier gene
pulmonary artery stenosis
sudden death
supravalvular aortic stenosis
Online Access:https://doi.org/10.1002/mgg3.986

Internet

https://doi.org/10.1002/mgg3.986

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