A bioinformatics framework for genotype–phenotype correlation in humans with Marfan syndrome caused by FBN1 gene mutations
✍ Scribed by Christian Baumgartner; Gábor Mátyás; Beat Steinmann; Martin Eberle; Jörg I. Stein; Daniela Baumgartner
- Book ID
- 113682035
- Publisher
- Elsevier Science
- Year
- 2006
- Tongue
- English
- Weight
- 391 KB
- Volume
- 39
- Category
- Article
- ISSN
- 1532-0464
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## Communicated by Jurgen Horst Marfan syndrome (MFS) is an autosomal-dominant disorder of the fibrous connective tissue that is typically caused by mutations in the gene coding for fibrillin-1 (FBN1), a major component of extracellular microfibrils. The clinical spectrum of MFS is highly variable
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