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Dural ectasia and FBN1 mutation screening of 40 patients with Marfan syndrome and related disorders: role of dural ectasia for the diagnosis.

Monica Attanasio,Elisa Pratelli,Maria Cristina Porciani,Lucia Evangelisti,Elena Torricelli,Giannantonio Pellicanò,Rosanna Abbate,Gian Franco Gensini,Guglielmina Pepe

European Journal of Medical Genetics（2013）

Cited 14|Views16
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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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