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Article

Marfan syndrome--a diagnostic challenge caused by phenotypic and genetic heterogeneity.

Methods of information in medicine - 1 Jan 2005

Baumgartner C, Mátyás G, Steinmann B, Baumgartner D

Abstract excerpt

OBJECTIVES: Marfan syndrome (MFS) is an autosomal dominant inherited connective tissue disorder caused by mutations in the fibrillin-1 (FBN1) gene with variable clinical manifestations in the cardiovascular, musculoskeletal and ocular systems. METHODS: Data of moleculor genetic analysis and a catalogue of clinical manifestations including aortic elastic parameters were mined in order to (i) assess aortic...

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Identifiers

PMID: 16342915

Genes

FBN1

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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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