C L S Turner


Country: UK


  1. Turner C, Emery H, Collins A, Howarth R, Yearwood C, Cross E, et al. 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. Am J Med Genet A. 2009;149A:161-70 pubmed publisher
    ..005) and in those who had ectopia lentis (EL) (P < 0.0001). Other previously reported genotype-phenotype correlations were also considered and a new inverse association between a mutation in exons 59-65, and EL emerged (P = 0.002). ..