Article
Familial thoracic aortic aneurysms and dissections: genetic heterogeneity with a major locus mapping to 5q13-14.
Circulation - 22 May 2001
Guo D, Hasham S, Kuang S Q, Vaughan C J, Boerwinkle E, Chen H, Abuelo D, Dietz H C, Basson C T, Shete S S, Milewicz D M
Abstract excerpt
BACKGROUND: Aneurysms and dissections affecting the ascending aorta are associated primarily with degeneration of the aortic media, called medial necrosis. Families identified with dominant inheritance of thoracic aortic aneurysms and dissections (TAA/dissections) indicate that single gene mutations can cause medial necrosis in the absence of an associated syndrome. METHODS AND RESULTS: Fifteen families were...
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