A Stickler syndrome gene is linked to chromosome 6 near the COL11A2 gene.

doi:10.1093/hmg/3.9.1561

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Article

A Stickler syndrome gene is linked to chromosome 6 near the COL11A2 gene.

Human molecular genetics - 1 Sept 1994

Brunner H G, van Beersum S E, Warman M L, Olsen B R, Ropers H H, Mariman E C

Abstract excerpt

Stickler syndrome (hereditary arthro-ophthalmopathy) is caused by mutations in the structural gene for collagen type II (COL2A1) in approximately 50% of cases. In the other families with this syndrome, the genetic defect is unknown. We have performed linkage analysis in a large Dutch kindred with...

Topics

Chromosome Mapping
Chromosomes, Human, Pair 6
Collagen
Eye Diseases
Female
Genes
Genetic Linkage
Humans
Joint Diseases
Male
Minisatellite Repeats
Mutation
Oligodeoxyribonucleotides
Pedigree
Polymorphism, Genetic
Repetitive Sequences, Nucleic Acid
Syndrome

Source

Open in PubMed

Identifiers

PMID: 7833911
DOI: 10.1093/hmg/3.9.1561

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-7833911-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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