fibrillinopathies
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#
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