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Article

Fibrillin abnormalities and prognosis in Marfan syndrome and related disorders.

American journal of medical genetics - 28 Aug 1995

Aoyama T, Francke U, Gasner C, Furthmayr H

Abstract excerpt

Marfan syndrome (MFS), a multisystem autosomal-dominant disorder, is characterized by mutations of the fibrillin-1 (FBN1) gene and by abnormal patterns of synthesis, secretion, and matrix deposition of the fibrillin protein. To determine the sensitivity and specificity of fibrillin protein abnormalities in the diagnosis of MFS, we studied dermal fibroblasts from 57 patients with classical MFS, 15 with equivocal...

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Identifiers

PMID: 8533811
DOI: 10.1002/ajmg.1320580216

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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Fibrillin abnormalities and prognosis in Marfan syndrome and related disorders.PMID 8533811Read ↗

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Ascending aortic aneurysm with or without features of Marfan syndrome and other fibrillinopathies: new insights.Semantic proximity Read ↗

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