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Clinical utility gene card for: Marfan syndrome type 1 and related phenotypes [FBN1]

✍ Scribed by Arslan-Kirchner, Mine; Arbustini, Eloisa; Boileau, Catherine; Child, Anne; Collod-Beroud, Gwenaelle; De Paepe, Anne; Epplen, Jörg; Jondeau, Guillaume; Loeys, Bart; Faivre, Laurence


Book ID
109849387
Publisher
Nature Publishing Group
Year
2010
Tongue
English
Weight
207 KB
Volume
18
Category
Article
ISSN
1018-4813

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Mutations of FBN1 and genotype–phenotype
✍ Peter N. Robinson; Patrick Booms; Stefanie Katzke; Markus Ladewig; Luitgard Neum 📂 Article 📅 2002 🏛 John Wiley and Sons 🌐 English ⚖ 174 KB

The Marfan syndrome (MFS) is a pleiotropic, autosomal dominant disorder of connective tissue with highly variable clinical manifestations including aortic dilatation and dissection, ectopia lentis, and a series of skeletal anomalies. Mutations in the gene for fibrillin-1 (FBN1) cause MFS, and at lea