Aneurysm Syndromes Caused by Mutations in the TGF-β Receptor

Loeys, Bart; Schwarze, Ulrike; M. Holm, Tammy; Callewaert, Bert; H. Thomas, George; Pannu, Hariyadarshi; De Backer, Julie; Oswald, Gretchen; Symoens, Sofie; Manouvrier, Sylvie; E. Roberts, Amy; Faravelli, Francesca; Alba Greco, M.; E. Pyeritz, Reed; M. Milewicz, Dianna; Coucke, Paul; E. Cameron, Duke; C. Braverman, Alan; H. Byers, Peter; M. De Paepe, Anne; C. Dietz, Harry

doi:10.1056/nejmoa055695

Public

Aneurysm Syndromes Caused by Mutations in the TGF-β Receptor

Published in New England Journal of Medicine • Aug 23, 2006

Authors:

Bart Loeys

Ulrike Schwarze

Tammy M. Holm

Abstract

BACKGROUND: The Loeys-Dietz syndrome is a recently described autosomal dominant aortic-aneurysm syndrome with widespread systemic involvement. The disease is characterized by the triad of arterial tortuosity and aneurysms, hypertelorism, and bifid uvula or cleft palate and is caused by heterozygous ...

Subject

Medicine

Ehlers–Danlos syndrome

Marfan syndrome

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