Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene

@article{Dietz1991MarfanSC,
  title={Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene},
  author={Harry C. Dietz and Carry R. Cutting and Reed E. Pyeritz and Cheryl L Maslen and Lynn Y Sakai and Glen M. Corson and Erik G. Puffenberger and Ada Hamosh and Elizabeth Nanthakumar and Sheila M. Curristin and Gail Stetten and Deborah A Meyers and Clair A Francomano},
  journal={Nature},
  year={1991},
  volume={352},
  pages={337-339}
}
MARFAN syndrome is an inherited disorder of connective tissue manifested in the ocular, skeletal and cardiovascular systems. It is inherited as an autosomal dominant with high penetrance, but has great clinical variability1. Linkage studies have mapped the Marfan locus to chromosome 15q 15–21.3 (refs 2, 3). There have been no reports of genetic heterogeneity in the syndrome. Following the identification of fibrillin (a glycoprotein component of the extracellular microfibril4… 

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An overview of the clinical aspects of the Marfan syndrome and current thinking on the pathogenesis of this disorder is provided.

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The cloning and partial sequencing of fibrillin cDNA are reported and it is reported that this molecule is a candidate Marfan gene and the architecture and development of connective tissues and its relationship to the Marfan syndrome are investigated.

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