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Volume 355:2155-2156 November 16, 2006 Number 20
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Aneurysm Syndromes and TGF-{beta} Receptor Mutations

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 by Loeys, B. L.
To the Editor: Loeys et al. (Aug. 24 issue)1 describe the clinical and molecular characteristics of the Loeys–Dietz syndrome associated with mutations in the genes encoding transforming growth factor beta (TGF-beta) receptors 1 and 2 (TGFBR1 and TGFBR2, respectively).

We found mutations in TGFBR1 and TGFBR2 in 19 members of 11 unrelated families, including 1 healthy 12-year-old carrier. Eighteen had aortic aneurysm or dissection. Of the 19 patients with mutations in these genes, 11 had at least one of the traits of the Loeys–Dietz syndrome, and the characteristics of 3 adults met the Ghent criteria2 for Marfan's syndrome. Seven . . . [Full Text of this Article]




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