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Article

Stickler syndrome: further mutations in COL11A1 and evidence for additional locus heterogeneity.

European journal of human genetics : EJHG - 1 Jan 2000

Martin S, Richards A J, Yates J R, Scott J D, Pope M, Snead M P

Abstract excerpt

Stickler syndrome (hereditary arthro-ophthalmopathy) is a dominantly inherited connective tissue disorder with ocular, oro-facial, auditory and skeletal manifestations. It is genetically and phenotypically heterogeneous with the majority of families having mutations in the gene encoding type II collagen (COL2A1) and exhibiting a characteristic 'membranous' or type 1 vitreous phenotype. More recently a novel...

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Identifiers

PMID: 10573014
DOI: 10.1038/sj.ejhg.5200377

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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.

Related research

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Stickler syndrome: further mutations in COL11A1 and evidence for additional locus heterogeneity.PMID 10573014Read ↗

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

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

Stickler syndrome and vitreoretinal degeneration: correlation between locus mutation and vitreous phenotype. Apropos of a case.Semantic proximity Read ↗

Inherited and de novo biallelic pathogenic variants in COL11A1 result in type 2 Stickler syndrome with severe hearing loss.Semantic proximity Read ↗

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

Variation in the vitreous phenotype of Stickler syndrome can be caused by different amino acid substitutions in the X position of the type II collagen Gly-X-Y triple helix.Semantic proximity Read ↗

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

Expanding the phenotype spectrum associated with pathogenic variants in the COL2A1 and COL11A1 genes.Semantic proximity Read ↗

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

Case report of the first molecular diagnosis of Stickler syndrome with a pathogenic COL2A1 variant in a Mongolia family.Semantic proximity Read ↗

Clinical and molecular genetics of Stickler syndromeSemantic proximity Read ↗

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