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Article

Mutations in the fibrillin gene responsible for dominant ectopia lentis and neonatal Marfan syndrome.

Nature genetics - 1 Jan 1994

Kainulainen K, Karttunen L, Puhakka L, Sakai L, Peltonen L

Abstract excerpt

Mutations in the gene coding for fibrillin on chromosome 15 (FBN1) are known to cause Marfan syndrome (MFS). A related disorder, dominant ectopia lentis (EL), has also been linked genetically to this locus. We now describe ten novel mutations of FBN1 resulting in strikingly different phenotypes. In addition to classic MFS, FBN1 mutations also give rise to EL and a severe neonatal form of MFS. Interestingly, the...

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Source

Identifiers

PMID: 8136837
DOI: 10.1038/ng0194-64

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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