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Article

Pleiotropy of a Stickler syndrome genotype.

European journal of ophthalmology - 1 Nov 2022

Baiyasi Ahmad, Barbosa Joshua, Parendo Anthony, Lin Xihui

Abstract excerpt

PURPOSE: To report a case of pleiotropy in the COL2A1 gene typically associated with Stickler Syndrome Type 1. OBSERVATIONS: A patient with a confirmed mutation of the COL2A1 gene presented with an isolated retinitis pigmentosa phenotype. CONCLUSIONS: The mutated COL2A1 gene in Stickler Syndrome Type 1 represents a site of pleiotropy, highlighting a change in phenotype across the same genotype potentially due to...

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Source

Identifiers

PMID: 34313156
DOI: 10.1177/11206721211035611

Provenance

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.

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