Dural ectasia and FBN1 mutation screening of 40 patients with Marfan syndrome and related disorders: role of dural ectasia for the diagnosis.
European Journal of Medical Genetics(2013)
Abstract
Marfan syndrome is an autosomal dominant disorder of connective tissue caused by mutations in the gene encoding fibrillin-1 (FBN1), a matrix component of microfibrils.
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Key words
Dural ectasia,FBN1 gene,Genotype–phenotype correlation,PTC mutation
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