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Article

[Indirect genotype analysis as a diagnostic procedure in Marfan syndrome].

Zeitschrift fur Kardiologie - 1 Oct 2000

Laudahn B M, Gyürüs P, Orth U, Gal A, Nienaber C A

Abstract excerpt

Marfan syndrome (MFS) is an autosomal dominant disorder of connective tissue characterized by skeletal, ocular and cardiovascular manifestations. The disease is caused by mutations in the FBN1 gene, encoding fibrillin, an important component of elastic fibers. Diagnosis of Marfan syndrome is currently based on detailed clinical examination and/or mutation analysis in the fibrillin gene. Clinical expression varies...

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Source

Identifiers

PMID: 11098545
DOI: 10.1007/s003920070168

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.

Related research

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[Indirect genotype analysis as a diagnostic procedure in Marfan syndrome].PMID 11098545Read ↗

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Molecular analysis for diagnosis of Marfan syndrome and Marfan-associated disorders.Semantic proximity Read ↗

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

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[Genetic testing for Marfan syndrome].Semantic proximity Read ↗

Detection of 53 FBN1 mutations (41 novel and 12 recurrent) and genotype-phenotype correlations in 113 unrelated probands referred with Marfan syndrome, or a related fibrillinopathy.Semantic proximity Read ↗

Clinical and genetic associations in Marfan syndrome and related disorders.Semantic proximity Read ↗

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