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Receptor Mutations
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(TGF-
) 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
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