The molecular pathogenesis of the Marfan syndrome.

  title={The molecular pathogenesis of the Marfan syndrome.},
  author={Peter N. Robinson and Patrick Booms},
  journal={Cellular and molecular life sciences : CMLS},
  volume={58 11},
The Marfan syndrome (MFS) is an autosomal dominant heritable disorder of connective tissue with highly variable clinical manifestations including aortic dilatation and dissection, ectopia lentis, and a range of skeletal anomalies. Mutations in the gene for fibrillin-1 (FBN1) cause MFS and other related disorders of connective tissue collectively termed type-1 fibrillinopathies. Fibrillin-1 is a main component of the 10- to 12-nm extracellular microfibrils that are important for elastogenesis… CONTINUE READING


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