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Mutation Spectrum and De Novo Mutation Analysis in Stickler Syndrome Patients with High Myopia or Retinal Detachment.

Genes - 3 Aug 2020

Huang Li, Chen Chonglin, Wang Zhirong, Sun Limei, Li Songshan, Zhang Ting, Luo Xiaoling, Ding Xiaoyan

Abstract excerpt

Stickler syndrome is a connective tissue disorder that affects multiple systems, including the visual system. Seven genes were reported to cause Stickler syndrome in patients with different phenotypes. In this study, we aimed to evaluate the mutation features of the phenotypes of high myopia and retinal detachment. Forty-two probands diagnosed with Stickler syndrome were included. Comprehensive ocular...

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Identifiers

PMID: 32756486
DOI: 10.3390/genes11080882
PMCID: PMC7464315

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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.

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