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
✦ LIBER ✦
Classic, atypically severe and neonatal Marfan syndrome: twelve mutations and genotype–phenotype correlations in FBN1 exons 24–40
✍ Scribed by Katzke, Stefanie; Booms, Patrick; Robinson, Peter N; Neumann, Luitgard; Godfrey, Maurice; Mathews, Kurt R; Scheuner, Maren; Hinkel, Georg Klaus; Brenner, Rolf E; Tiecke, Frank
- Book ID
- 110025073
- Publisher
- Nature Publishing Group
- Year
- 2001
- Tongue
- English
- Weight
- 220 KB
- Volume
- 9
- Category
- Article
- ISSN
- 1018-4813
No coin nor oath required. For personal study only.
📜 SIMILAR VOLUMES
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
Identification of 29 novel and nine recu
✍
Kathrin Rommel; Matthias Karck; Axel Haverich; Yskert von Kodolitsch; Meike Rybc
📂
Article
📅
2005
🏛
John Wiley and Sons
🌐
English
⚖ 180 KB
## Communicated by Jurgen Horst Marfan syndrome (MFS) is an autosomal-dominant disorder of the fibrous connective tissue that is typically caused by mutations in the gene coding for fibrillin-1 (FBN1), a major component of extracellular microfibrils. The clinical spectrum of MFS is highly variable
Detection of 53 FBN1 mutations (41 novel
✍
C.L.S. Turner; H. Emery; A.L. Collins; R.J. Howarth; C.M. Yearwood; E. Cross; P.
📂
Article
📅
2009
🏛
John Wiley and Sons
🌐
English
⚖ 223 KB
👁 2 views