Article
FBN1, TGFBR1, and the Marfan-craniosynostosis/mental retardation disorders revisited.
American journal of medical genetics. Part A - 15 May 2006
Adès L C, Sullivan K, Biggin A, Haan E A, Brett M, Holman K J, Dixon J, Robertson S, Holmes A D, Rogers J, Bennetts B
Abstract excerpt
The recent identification of TGFBR2 mutations in Marfan syndrome II (MFSII) [Mizuguchi et al. (2004); Nat Genet 36:855-860] and of TGFBR1 and TGFBR2 mutations in Loeys-Dietz aortic aneurysm syndrome (LDS) [Loeys et al. (2005); Nat Genet 37:275-281] [OMIM 609192] has provided direct evidence of abnormal signaling in transforming growth factors beta (TGF-beta) in the pathogenesis of Marfan syndrome (MFS). In light...
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