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

ConclusionOur 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.

Source: Molecular Genetics & Genomic Medicine - September 26, 2019 Category: Genetics & Stem Cells Authors: Kaori Sugiyama, Hitoshi Horigome, Lisheng Lin, Takashi Murakami, Junko Shiono, Yoshito Yamashiro, Hiroyuki Matsuura, Hitoshi Yoda, Hiromi Yanagisawa Tags: CLINICAL REPORT Source Type: research