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fibrillinopathies

Monday 17 November 2003

Classification

- type 1 fibrillinopathies (fibrillin-1 gene mutations)

  • Marfan syndrome
  • autosomal dominant Weill-Marchesani syndrome (12525539)
  • familial kyphoscoliosis and vertebral dysplasia (11992479)

References

- Dietz HC, Pyeritz RE. Mutations in the human gene for fibrillin-1 (FBN1) in the Marfan syndrome and related disorders. Hum Mol Genet. 1995 ;4 Spec No:1799-809. PMID : 8541880