Home > D. General pathology > Genetic and developmental anomalies > fibrillinopathies
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
