Fibrillin protein pleiotropy: Acromelic dysplasias.

@article{Sakai2019FibrillinPP,
  title={Fibrillin protein pleiotropy: Acromelic dysplasias.},
  author={Lynn Y Sakai and Douglas R. Keene},
  journal={Matrix biology : journal of the International Society for Matrix Biology},
  year={2019},
  volume={80},
  pages={
          6-13
        }
}
The fibrillins are large extracellular matrix molecules that polymerize to form microfibrils. Fibrillin microfibrils are distinctive architectural elements that are both ubiquitous in the connective tissue space and also unique, displaying tissue-specific patterns. Mutations in the genes for fibrillin-1 (FBN1) result in multiple distinct pleiotropic disorders. Most of the more than 3000 mutations known today in FBN1 cause the Marfan syndrome. Marfan mutations can occur in any of the 56 domains… CONTINUE READING
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