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
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Three novel fibrillin mutations in exons 25 and 27: Classic versus neonatal Marfan syndrome
โ Scribed by Mei Wang; Ji-Yi Wang; Jason Cisler; Kiyoshi Imaizumi; Barbara K. Burton; Marilyn C. Jones; John J. Lamberti; Maurice Godfrey
- Publisher
- John Wiley and Sons
- Year
- 1997
- Tongue
- English
- Weight
- 139 KB
- Volume
- 9
- Category
- Article
- ISSN
- 1059-7794
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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