Article
Identification of 29 novel and nine recurrent fibrillin-1 (FBN1) mutations and genotype-phenotype correlations in 76 patients with Marfan syndrome.
Human mutation - 1 Dec 2005
Rommel Kathrin, Karck Matthias, Haverich Axel, von Kodolitsch Yskert, Rybczynski Meike, Müller Götz, Singh Krishna K, Schmidtke Jörg, Arslan-Kirchner Mine
Abstract excerpt
Marfan syndrome (MFS) is an autosomal-dominant disorder of the fibrous connective tissue that is typically caused by mutations in the gene coding for fibrillin-1 (FBN1), a major component of extracellular microfibrils. The clinical spectrum of MFS is highly variable and includes involvement of the cardiovascular, skeletal, ocular, and other organ systems; however, the genotype-phenotype correlations have not been...
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