The molecular pathogenesis of the Marfan syndrome.

@article{Robinson2001TheMP,
  title={The molecular pathogenesis of the Marfan syndrome.},
  author={Peter N. Robinson and Patrick Booms},
  journal={Cellular and molecular life sciences : CMLS},
  year={2001},
  volume={58 11},
  pages={1698-707}
}
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

Citations

Publications citing this paper.
Showing 1-10 of 25 extracted citations

A novel fibrillin-1 mutation in an egyptian marfan family: A proband showing nephrotic syndrome due to focal segmental glomerulosclerosis.

Saudi journal of kidney diseases and transplantation : an official publication of the Saudi Center for Organ Transplantation, Saudi Arabia • 2017
View 2 Excerpts

Marfan Syndrome

Journal of pharmacy & bioallied sciences • 2017

Similar Papers

Loading similar papers…