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supravalvar aortic stenosis syndrome


Definition: supravalvar aortic stenosis (usually membranous) sometimes associated with pulmonary valvar or peripheral arterial stenosis but with normal facies and mentality; autosomal dominant inheritance, caused by mutation in the elastin gene (ELN) on chromosome 7q.

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© Copyright 2018 Wolters Kluwer. All Rights Reserved. Review date: Sep 19, 2016.