Article
Classic, atypically severe and neonatal Marfan syndrome: twelve mutations and genotype-phenotype correlations in FBN1 exons 24-40.
European journal of human genetics : EJHG - 1 Jan 2001
Tiecke F, Katzke S, Booms P, Robinson P N, Neumann L, Godfrey M, Mathews K R, Scheuner M, Hinkel G K, Brenner R E, Hövels-Gürich H H, Hagemeier C, Fuchs J, Skovby F, Rosenberg T
Abstract excerpt
Mutations in the gene for fibrillin-1 (FBN1) cause Marfan syndrome, an autosomal dominant disorder of connective tissue with prominent manifestations in the skeletal, ocular, and cardiovascular system. There is a remarkable degree of clinical variability both within and between families with Marfan syndrome as well as in individuals with related disorders of connective tissue caused by FBN1 mutations and...
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