Marfan syndrome (MFS) is an autosomal dominant connective tissue disorder characterized by manifestations in the cardiovascular, skeletal, ocular, and other organ systems. MFS type1 (MFS1) is caused by mutations in the gene encoding fibrillin (FBN1). Recently, the transforming growth factor-beta rec
β¦ LIBER β¦
High prevalence of vertebral artery tortuosity of Loeys-Dietz syndrome in comparison with Marfan syndrome
β Scribed by Atsushi K. Kono; Masahiro Higashi; Hiroko Morisaki; Takayuki Morisaki; Yoshiaki Tsutsumi; Koichi Akutsu; Hiroaki Naito; Kazuro Sugimura
- Book ID
- 107408703
- Publisher
- Springer
- Year
- 2010
- Tongue
- English
- Weight
- 318 KB
- Volume
- 28
- Category
- Article
- ISSN
- 1867-1071
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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