Singleton-Merten Syndrome and Impaired Cardiac Function
نویسندگان
چکیده
منابع مشابه
RIG-I-Like Receptor Signaling in Singleton-Merten Syndrome
Singleton-Merten syndrome (SMS) is an autosomal dominant, multi-system innate immune disorder characterized by early and severe aortic and valvular calcification, dental and skeletal abnormalities, psoriasis, glaucoma, and other varying clinical findings. Recently we identified a specific gain-of-function mutation in IFIH1, interferon induced with helicase C domain 1, segregated with this disea...
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s of the 51st Workshop for Pediatric Research 51st Workshop for Pediatric Research Göttingen, Germany 16-17 April 2015 This supplement has not been sponsored. Meeting abstracts Meeting abstract Singleton-Merten Syndrome (SMS) is a rare autosomal-dominant disorder characterized by a variety of symptoms including extreme calcifications of the ascending aorta and cardiac valves, dental anomalies (...
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ژورنال
عنوان ژورنال: Journal of the American College of Cardiology
سال: 2010
ISSN: 0735-1097
DOI: 10.1016/j.jacc.2010.02.078