FBN1– Mutations in the fibrillin-1 gene (FBN1) account for ~90% of autosomal dominant cases of MFS. Mutations within the FBN1 gene may disrupt microfibril formation, leading to abnormalities of fibrillin and eventually weakening the connective tissue. Marfan syndrome (MFS) is an autosomal dominant hereditary disease comprising a disorder of fibrous connective tissue involving the ocular, skeletal and cardiovascular systems. c.1708 T>G (p.C570G) and c.1708T>G located at exon 14 resulted in pectus carinatum and aortic dissection.
Doctor, Nurse & Specialist Shortage in America
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