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...
Topics
- Fibrillin-1
- Fibrillins
- Genotype
- Humans
- Marfan Syndrome
- Microfilament Proteins
- Mutation
- Phenotype