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Article

Genotype-Phenotype Correlations of COL2A1 and COL11A1 Patients.

American journal of ophthalmology - 1 Jan 2026

Constant Antoine, Daruich Alejandra, Bernabei Federico, Robert Matthieu P, Burin-Des-Roziers Cyril, Valleix Sophie, Bremond-Gignac Dominique, Brézin Antoine P, Rothschild Pierre-Raphaël

Abstract excerpt

PURPOSE: To describe and compare the ophthalmologic and extraophthalmologic features of patients with Stickler syndrome because of pathogenic variants in COL2A1 and COL11A1. DESIGN: Retrospective cross-sectional study nested in a multicentric cohort study. METHODS: Records of patients with a confirmed molecular diagnosis of Stickler syndrome followed up in the ophthalmology department at Necker-Enfants Malades...

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Source

Identifiers

PMID: 40930209
DOI: 10.1016/j.ajo.2025.09.011

Genes

COL11A1
COL2A1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

Related research

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Genotype-Phenotype Correlations of COL2A1 and COL11A1 Patients.PMID 40930209Read ↗

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

Mutation Spectrum of Stickler Syndrome Type I and Genotype-phenotype Analysis in East Asian Population: a systematic review.Semantic proximity Read ↗

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

Genetic testing results of children suspected to have Stickler syndrome type collagenopathy after ocular examination.Semantic proximity Read ↗

Total Retinal Detachment Combined with a Novel Nonsense Mutation in the COL2A1 Gene: A Case ReportSemantic proximity Read ↗

Targeted next‑generation sequencing identifies two novel COL2A1 gene mutations in Stickler syndrome with bilateral retinal detachment.Semantic proximity Read ↗

Stickler syndrome - lessons from a national cohort.Semantic proximity Read ↗

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