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Article

Exclusion of COL2A1 as a candidate gene in a family with Wagner-Stickler syndrome.

Journal of medical genetics - 1 Feb 1990

Fryer A E, Upadhyaya M, Littler M, Bacon P, Watkins D, Tsipouras P, Harper P S

Abstract excerpt

A large family with Wagner's vitreoretinal degeneration but none of the non-ocular features of Stickler's syndrome has been studied with gene probes for type II collagen. Recombination has been observed, thus excluding type II collagen as the site of mutation in this family. This report supports other published evidence that the Wagner-Stickler syndrome is genetically heterogeneous.

Topics

Bone Diseases, Developmental
Collagen
Facial Bones
Female
Genes
Humans
Male
Pedigree
Phenotype
Recombination, Genetic
Retinal Degeneration
Skull

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Syndrome

Source

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Identifiers

PMID: 2319589
DOI: 10.1136/jmg.27.2.91
PMCID: PMC1016927

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-2319589-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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Exclusion of COL2A1 as a candidate gene in a family with Wagner-Stickler syndrome.PMID 2319589Read ↗

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Stickler syndrome: correlation between vitreoretinal phenotypes and linkage to COL 2A1.Semantic proximity Read ↗

Mutation in collagen II alpha 1 isoforms delineates Stickler and Wagner syndrome phenotypes.Semantic proximity Read ↗

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