Mutations in the fibrillin gene responsible for dominant ectopia lentis and neonatal Marfan syndrome
β Scribed by Kainulainen, Katariina; Karttunen, Leena; Puhakka, Lea; Sakai, Lynn; Peltonen, Leena
- Book ID
- 109914912
- Publisher
- Nature Publishing Group
- Year
- 1994
- Tongue
- English
- Weight
- 606 KB
- Volume
- 6
- Category
- Article
- ISSN
- 1061-4036
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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