## Abstract In order to evaluate the contribution of __FBN1, FBN2, TGFBR1__, and __TGFBR2__ mutations to the Marfan syndrome (MFS) phenotype, the four genes were analyzed by direct sequencing in 49 patients with MFS or suspected MFS as a cohort study. A total of 27 __FBN1__ mutations (22 novel) in
✦ LIBER ✦
Analysis of genes encoding laminin β2 and related proteins in patients with Galloway–Mowat syndrome
✍ Scribed by Andreas Dietrich; Verena Matejas; Martin Bitzan; Seema Hashmi; Cathy Kiraly-Borri; Shuan-Pei Lin; Eva Mildenberger; Bernd Hoppe; Lars Palm; Takashi Shiihara; Jens-Oliver Steiss; Jeng-Daw Tsai; Udo Vester; Stefanie Weber; Elke Wühl; Kristina Zepf; Martin Zenker
- Publisher
- Springer
- Year
- 2008
- Tongue
- English
- Weight
- 207 KB
- Volume
- 23
- Category
- Article
- ISSN
- 0931-041X
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TGFBR1 and TGFBR2 gene mutations have been associated with Marfan syndrome types 1 and 2, Loeys-Dietz syndrome and isolated familial thoracic aortic aneurysms or dissection. In order to investigate the molecular and clinical spectrum of TGFBR2 mutations we screened the gene in 457 probands suspected