Abstract
Marfan syndrome (MFS) is one of heritable disorders of connective tissue with manifestations involving primarily skeletal, ocular and cardiovascular systems, but also less frequently the lung, skin and integument, and dura. Recent studies on the molecular genetics of MFS have shown that MFS is caused by the mutations in the gene for fibrillin-1 ( FBN1 ). The following aspects will be described in this review :the structure and function of fibrillin-1 ;the fibrillin proteins; mutations in the FBN1 gene. This review will focus on the currently available gene diagnostic tests in particular. Key words: Marfan syndrome; Fibrillin; FBN1; Gene diagnose
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