Aneurysm syndromes caused by mutations in the TGF-beta receptor.

TitleAneurysm syndromes caused by mutations in the TGF-beta receptor.
Publication TypeJournal Article
Year of Publication2006
AuthorsLoeys BL, Schwarze U, Holm T, Callewaert BL, Thomas GH, Pannu H, De Backer JF, Oswald GL, Symoens S, Manouvrier S, Roberts AE, Faravelli F, Greco AM, Pyeritz RE, Milewicz DM, Coucke PJ, Cameron DE, Braverman AC, Byers PH, De Paepe AM, Dietz HC
JournalThe New England journal of medicine
Volume355
Issue8
Pagination788-98
Date Published2006 Aug 24
Abstract

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).

Alternate JournalN. Engl. J. Med.