supravalvar aortic stenosis syndrome

su·pra·val·var a·or·tic ste·no·sis syn·drome

[MIM*185500] 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. Compare: Williams syndrome.

单词	supravalvar aortic stenosis syndrome
释义	DictionarySeeWilliams syndrome supravalvar aortic stenosis syndrome su·pra·val·var a·or·tic ste·no·sis syn·drome [MIM185500] 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. Compare: Williams syndrome. su·pra·val·var a·or·tic ste·no·sis syn·drome [MIM185500] 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. Compare: Williams syndrome.
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