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Trio-based whole-exome sequencing of 200 Chinese patients with keratoconus.

Experimental eye research - 1 Nov 2024

Li Xingyong, Yao Yinghao, Xing Shilai, Zheng Yi-Han, Zhou Yang, Yu Xiaoguang, Su Jianzhong, Chen Shihao, Jin Zi-Bing

Abstract excerpt

Keratoconus (KC) is a complex corneal disorder with a well-recognized genetic component. In this study, we aimed to expand the genetic spectrum of 200 Chinese patients with keratoconus and their unaffected parents. Trio-based whole-exome sequencing was performed in 200 patients with sporadic keratoconus and their unaffected parents. The variants identified in candidate genes for keratoconus were analyzed using...

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PMID: 39326774
DOI: 10.1016/j.exer.2024.110109

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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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