Article
Aneurysm syndromes caused by mutations in the TGF-beta receptor.
The New England journal of medicine - 24 Aug 2006
Loeys Bart L, Schwarze Ulrike, Holm Tammy, Callewaert Bert L, Thomas George H, Pannu Hariyadarshi, De Backer Julie F, Oswald Gretchen L, Symoens Sofie, Manouvrier Sylvie, Roberts Amy E, Faravelli Francesca, Greco M Alba, Pyeritz Reed E, Milewicz Dianna M, Coucke Paul J, Cameron Duke E, Braverman Alan C, Byers Peter H, De Paepe Anne M, Dietz Harry C
Abstract excerpt
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 mutations in the genes encoding transforming growth factor beta receptors 1 and 2 (TGFBR1 and TGFBR2, respectively)....
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