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Article

Identification of the minimal combination of clinical features in probands for efficient mutation detection in the FBN1 gene.

European journal of human genetics : EJHG - 1 Sept 2009

Stheneur Chantal, Collod-Béroud Gwenaëlle, Faivre Laurence, Buyck Jean François, Gouya Laurent, Le Parc Jean-Marie, Moura Bertrand, Muti Christine, Grandchamp Bernard, Sultan Gilles, Claustres Mireille, Aegerter Philippe, Chevallier Bertrand, Jondeau Guillaume, Boileau Catherine

Abstract excerpt

Mutations identified in the fibrillin-1 (FBN1) gene have been associated with Marfan syndrome (MFS). Molecular analysis of the gene is classically performed in probands with MFS to offer diagnosis for at-risk relatives and in children highly suspected of MFS. However, FBN1 gene mutations are found in an ill-defined group of diseases termed 'type I fibrillinopathies', which are associated with an increased risk of...

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Identifiers

PMID: 19293843
DOI: 10.1038/ejhg.2009.36
PMCID: PMC2986588

Genes

FBN1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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