Fibrillin is the major component of extracellular microfibrils and is widely distributed in connective tissue throughout the body. Mutations in the fibrillin-1 (FBN1) gene, on chromosome 15q21.1, have been found to cause Marfan syndrome, a dominantly inherited disorder characterised by clinically va
Histopathology and fibrillin-1 distribution in severe early onset Marfan syndrome
✍ Scribed by K.M. Summers; M. Nataatmadja; D. Xu; M.J. West; J.J. McGill; C. Whight; A. Colley; L.C. Adès
- Publisher
- John Wiley and Sons
- Year
- 2005
- Tongue
- English
- Weight
- 457 KB
- Volume
- 139A
- Category
- Article
- ISSN
- 1552-4825
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Marfan Syndrome (MfS) is an autosomal dominant inherited connective tissue disorder with variable phenotypic expression of cardiovascular, skeletal and ocular manifestations. Cardiovascular complications, such as aortic aneurysm and dissection drastically reduce life expectancy of individuals with M
Mutations in the fibrillin-1 gene on chromosome 15q21.1 have been found to cause Marfan syndrome, a dominantly inherited disorder characterised by clinically variable skeletal, ocular, and cardiovascular abnormalities. In this study we screened all 65 exons of the fibrillin-1 gene in 20 Marfan syndr