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Article

A novel mutation of the fibrillin gene causing ectopia lentis.

Genomics - 1 Feb 1994

Lönnqvist L, Child A, Kainulainen K, Davidson R, Puhakka L, Peltonen L

Abstract excerpt

Ectopia lentis (EL), a dominantly inherited connective tissue disorder, has been genetically linked to the fibrillin gene on chromosome 15 (FBN1) in earlier studies. Here, we report the first EL mutation in the FBN1 gene confirming that EL is caused by mutations of this gene. So far, several mutations in the FBN1 gene have been reported in patients with Marfan syndrome (MFS). EL and MFS are clinically related but...

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Source

Identifiers

PMID: 8188302
DOI: 10.1006/geno.1994.1110

Genes

FBN1
EGF

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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A novel mutation of the fibrillin gene causing ectopia lentis.PMID 8188302Read ↗

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