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Article

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 - 1 Jul 2013

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

Abstract excerpt

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. Dural ectasia, i.e. enlargement of the neural canal mainly located in the lower lumbar and sacral region, frequently occurs in Marfan patients. The aim of our study was to investigate the role of dural ectasia in raising the diagnosis of Marfan...

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Source

Identifiers

PMID: 23684891
DOI: 10.1016/j.ejmg.2013.04.006

Genes

FBN1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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