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Article

FBN1 mutation screening of patients with Marfan syndrome and related disorders: detection of 46 novel FBN1 mutations.

Clinical genetics - 1 Jul 2008

Attanasio M, Lapini I, Evangelisti L, Lucarini L, Giusti B, Porciani Mc, Fattori R, Anichini C, Abbate R, Gensini Gf, Pepe G

Abstract excerpt

Fibrillin-1 gene (FBN1) mutations cause Marfan syndrome (MFS), an inherited connective tissue disorder with autosomal dominant transmission. Major clinical manifestations affect cardiovascular and skeletal apparatuses and ocular and central nervous systems. We analyzed FBN1 gene in 99 patients referred to our Center for Marfan Syndrome and Related Disorders (University of Florence, Florence, Italy): 85 were...

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Source

Identifiers

PMID: 18435798
DOI: 10.1111/j.1399-0004.2008.01007.x

Genes

FBN1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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FBN1 mutation screening of patients with Marfan syndrome and related disorders: detection of 46 novel FBN1 mutations.PMID 18435798Read ↗

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Detection of thirty novel FBN1 mutations in patients with Marfan syndrome or a related fibrillinopathy.Semantic proximity Read ↗

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