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Article

Next-generation sequencing-aided precise diagnosis of Stickler syndrome type I.

Acta ophthalmologica - 1 Jun 2020

Wang Dan-Dan, Gao Feng-Juan, Hu Fang-Yuan, Li Jian-Kang, Zhang Sheng-Hai, Xu Ping, Chang Qing, Jiang Rui, Wu Ji-Hong

Abstract excerpt

PURPOSE: To explore an early, rapid and precise diagnosis of Stickler syndrome type I (STL1) and to enrich the spectrum of COL2A1 mutations in the Chinese population, which is poorly studied at present. METHODS: In the current study, we analysed 115 patients with high myopia by next-generation sequencing and identified five STL1 patients from four unrelated Chinese families. The clinical features of all patients...

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PMID: 31736238
DOI: 10.1111/aos.14302

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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