Article
Analysis of multigenerational families with thoracic aortic aneurysms and dissections due to TGFBR1 or TGFBR2 mutations.
Journal of medical genetics - 1 Sept 2009
Tran-Fadulu V, Pannu H, Kim D H, Vick G W, Lonsford C M, Lafont A L, Boccalandro C, Smart S, Peterson K L, Hain J Zenger, Willing M C, Coselli J S, LeMaire S A, Ahn C, Byers P H, Milewicz D M
Abstract excerpt
BACKGROUND: Mutations in the transforming growth factor beta receptor type I and II genes (TGFBR1 and TGFBR2) cause Loeys-Dietz syndrome (LDS), characterised by thoracic aortic aneurysms and dissections (TAAD), aneurysms and dissections of other arteries, craniosynostosis, cleft palate/bifid uvula, hypertelorism, congenital heart defects, arterial tortuosity, and mental retardation. TGFBR2 mutations can also...
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