Article
Detection of 53 FBN1 mutations (41 novel and 12 recurrent) and genotype-phenotype correlations in 113 unrelated probands referred with Marfan syndrome, or a related fibrillinopathy.
American journal of medical genetics. Part A - 1 Feb 2009
Turner C L S, Emery H, Collins A L, Howarth R J, Yearwood C M, Cross E, Duncan P J, Bunyan D J, Harvey J F, Foulds N C
Abstract excerpt
Mutations in the gene encoding fibrillin 1 (FBN1) cause Marfan syndrome (MFS), and related connective tissue disorders. The disease spectrum is wide and while many genotype-phenotype correlations have been reported, few have been consistent. In this study FBN1 was analyzed in 113 patients with MFS or Marfan-like features. Fifty-three mutations were identified in 52 individuals, 41 of which were novel. The...
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