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Article

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

International journal of molecular medicine - 1 Oct 2018

Huang Xinhua, Lin Ying, Chen Chuan, Zhu Yi, Gao Hongbin, Li Tao, Liu Bingqian, Lyu Cancan, Huang Ying, Wu Qingxiu, Li Haichun, Jin Chenjin, Liang Xiaoling, Lu Lin

Abstract excerpt

Stickler syndrome is a group of inherited connective tissue disorders characterized by distinctive facial and ocular abnormalities, hearing loss and early‑onset arthritis. The aim of the present study was to investigate the genetic changes in two Chinese patients with Stickler syndrome, manifested as bilateral retinal detachment and peripheral retinal degeneration. Complete ophthalmic examinations, including...

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Identifiers

PMID: 30015854
DOI: 10.3892/ijmm.2018.3752
PMCID: PMC6108863

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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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Targeted next‑generation sequencing identifies two novel COL2A1 gene mutations in Stickler syndrome with bilateral retinal detachment.PMID 30015854Read ↗

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

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

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