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Twelve novel FBN1 mutations in Marfan syndrome and Marfan related phenotypes test the feasibility of FBN1 mutation testing in clinical practice

1 Aug 2002

Abstract excerpt

Marfan syndrome (MFS) is one of the major heritable disorders of connective tissue with a prevalence of between 1 in 5-10 000.1,2 It is characterised by features in the cardiovascular, ocular, and musculoskeletal systems and the Ghent criteria form a useful framework for its diagnosis.3 Mutations in FBN1 encoding the extracellular matrix protein fibrillin-1 classically cause MFS.4 Fibrillin-1, comprising multiple...

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PMID: 12161601
DOI: 10.1136/jmg.39.8.589

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Twelve novel FBN1 mutations in Marfan syndrome and Marfan related phenotypes test the feasibility of FBN1 mutation testing in clinical practicePMID 12161601Read ↗

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