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Article

The molecular genetics of Marfan syndrome and related microfibrillopathies.

Journal of medical genetics - 1 Jan 2000

Robinson P N, Godfrey M

Abstract excerpt

Mutations in the gene for fibrillin-1 (FBN1) have been shown to cause Marfan syndrome, an autosomal dominant disorder of connective tissue characterised by pleiotropic manifestations involving primarily the ocular, skeletal, and cardiovascular systems. Fibrillin-1 is a major component of the 10-12 nm microfibrils, which are thought to play a role in tropoelastin deposition and elastic fibre formation in addition...

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Source

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Identifiers

PMID: 10633129
DOI: 10.1136/jmg.37.1.9
PMCID: PMC1734449

Genes

FBN1
FBN2

Provenance

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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