![]() ![]() In 75% of cases, this syndrome has a hereditary cause (25% results of new mutation). Incidence of MFS is approximately 1 in 5000 births, without differences among gender, ethnic, and geographic groups of affected individuals. This gene is responsible for the production of fibrillin-1 glycoprotein in the human body. The inheritance pattern in this syndrome is autosomal dominant (AD), and mutations in the gene for fibrillin-1 (FBN1) cause most cases of MFS. Marfan syndrome (MFS) is a hereditary connective tissue disorder with skeletal, cardiovascular, and ocular manifestations. In this research, FBN1 was screened for all affected individuals in a suspected Italian pedigree to the MFS. Marfan syndrome (MFS) is a hereditary connective tissue disorder and causes mainly by a mutation in the FBN1 gene.
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