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Aneurysm syndromes caused by mutations in the TGF-beta receptor.
|Title||Aneurysm syndromes caused by mutations in the TGF-beta receptor.|
|Publication Type||Journal Article|
|Year of Publication||2006|
|Authors||Loeys 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|
|Journal||The New England journal of medicine|
|Date Published||2006 Aug 24|
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 Journal||N. Engl. J. Med.|