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

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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...

Topics

Adolescent
Aorta
Case-Control Studies
Elasticity
Female
Fibrillin-1
Fibrillins
Genotype
Humans
Male
Marfan Syndrome
Microfilament Proteins
Models, Statistical
Molecular Biology
Mutation
Phenotype
Probability
Ultrasonography

Source

Open in PubMed

Identifiers

PMID: 16342915

Genes

FBN1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026.

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