Article
Mutations of FBN1 and genotype-phenotype correlations in Marfan syndrome and related fibrillinopathies.
Human mutation - 1 Sept 2002
Robinson Peter N, Booms Patrick, Katzke Stefanie, Ladewig Markus, Neumann Luitgard, Palz Monika, Pregla Reinhard, Tiecke Frank, Rosenberg Thomas
Abstract excerpt
The Marfan syndrome (MFS) is a pleiotropic, autosomal dominant disorder of connective tissue with highly variable clinical manifestations including aortic dilatation and dissection, ectopia lentis, and a series of skeletal anomalies. Mutations in the gene for fibrillin-1 (FBN1) cause MFS, and at least 337 mainly unique mutations have been published to date. FBN1 mutations have been found not only in MFS but also...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.