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Article

Stickler syndrome: correlation between vitreoretinal phenotypes and linkage to COL 2A1.

Eye (London, England) - 1 Jan 1994

Snead M P, Payne S J, Barton D E, Yates J R, al-Imara L, Pope F M, Scott J D

Abstract excerpt

Stickler syndrome is an autosomal dominantly inherited condition characterised by ocular, articular, facial, auditory and oral features. There is locus heterogeneity with about two thirds of families showing linkage to the gene encoding type II procollagen (COL 2A1). Clinical overlap with Marshall's, Wagner's and other syndromes has caused considerable confusion but the importance of the congenital vitreous...

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Identifiers

PMID: 7867814
DOI: 10.1038/eye.1994.153

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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Related research

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Stickler syndrome: correlation between vitreoretinal phenotypes and linkage to COL 2A1.PMID 7867814Read ↗

COL2A1 exon 2 mutations: relevance to the Stickler and Wagner syndromes.Semantic proximity Read ↗

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Clinical and molecular genetics of Stickler syndromeSemantic proximity Read ↗

Radial perivascular retinal degeneration: a key to the clinical diagnosis of an ocular variant of Stickler syndrome with minimal or no systemic manifestations.Semantic proximity Read ↗

Stickler syndrome: an underdiagnosed disease. Report of a family.Semantic proximity Read ↗

Retinal Detachment in Type IX collagen recessive Stickler syndromeSemantic proximity Read ↗

Stickler syndrome and the vitreous phenotype: mutations in COL2A1 and COL11A1.Semantic proximity Read ↗

Characteristics of a Three-Generation Family with Stickler Syndrome Type I Carrying Two Different COL2A1 Mutations.Semantic proximity Read ↗

Correlation of linkage data with phenotype in eight families with Stickler syndrome.Semantic proximity Read ↗

Stickler syndrome: further mutations in COL11A1 and evidence for additional locus heterogeneity.Semantic proximity Read ↗

Retinal detachment in Type IX collagen recessive Stickler syndrome.Semantic proximity Read ↗

A family with Stickler syndrome type 2 has a mutation in the COL11A1 gene resulting in the substitution of glycine 97 by valine in alpha 1 (XI) collagen.Semantic proximity Read ↗

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