FBN1, TGFBR1, and the Marfan-craniosynostosis/mental retardation disorders revisited.

@article{Ads2006FBN1TA,
  title={FBN1, TGFBR1, and the Marfan-craniosynostosis/mental retardation disorders revisited.},
  author={Lesley Ad{\`e}s and Katherine Sullivan and Andrew Biggin and Eric Haan and Maggie Brett and Katherine J. Holman and Joanne Dixon and S. D. T. Robertson and Anthony D. Holmes and Justin C. Rogers and Bruce H Bennetts},
  journal={American journal of medical genetics. Part A},
  year={2006},
  volume={140 10},
  pages={1047-58}
}
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 of this, we describe the phenotypes and genotypes of five individuals. Patient 1… CONTINUE READING

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