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

Kaori SugiyamaHitoshi HorigomeLisheng LinTakashi MurakamiJunko ShionoYoshito YamashiroHiroyuki MatsuuraHitoshi YodaHiromi Yanagisawa
Published in: Molecular genetics & genomic medicine (2019)
Our report shows a broad spectrum of clinical features in family members sharing the identical mutations, suggesting a potential contribution of modifier gene(s) or interactions with environmental factors.
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