Recent progress towards a molecular understanding of Marfan syndrome.

  title={Recent progress towards a molecular understanding of Marfan syndrome.},
  author={Harry C Dietz and Bart Loeys and Luca Carta and Francesco Ramirez},
  journal={American journal of medical genetics. Part C, Seminars in medical genetics},
  volume={139C 1},
Marfan syndrome (MFS) is a systemic disorder of the connective tissue that is inherited as an autosomal dominant trait and which displays variable manifestations in the ocular, skeletal, and cardiovascular systems. These pleiotropic manifestations are accounted for by mutations in fibrillin-1, the building block of extracellular microfibrils. During the past 10 years, we have witnessed significant progress in delineating the pathological events responsible for the manifestations of MFS. Much of… CONTINUE READING
74 Citations
0 References
Similar Papers


Publications citing this paper.
Showing 1-10 of 74 extracted citations

Similar Papers

Loading similar papers…