Novel ELN mutation in a Japanese family with a severe form of supravalvular aortic stenosis.
Kaori SugiyamaHitoshi HorigomeLisheng LinTakashi MurakamiJunko ShionoYoshito YamashiroHiroyuki MatsuuraHitoshi YodaHiromi YanagisawaPublished 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.
Keyphrases
- aortic stenosis
- transcatheter aortic valve replacement
- ejection fraction
- aortic valve replacement
- aortic valve
- transcatheter aortic valve implantation
- left ventricular
- coronary artery disease
- copy number
- genome wide
- social media
- early onset
- health information
- genome wide identification
- human health
- heart failure
- drug induced
- climate change