LAUSR

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

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1 Published in 2019 at "Molecular Genetics & Genomic Medicine"

DOI: 10.1002/mgg3.986

Abstract: 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… read more here.

Keywords: novel eln; aortic stenosis; stenosis; supravalvular aortic ... See more keywords