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Article

Identification of candidate genes for keratoconus by trio-based whole-exome sequencing in 81 families from Northwest China.

Experimental eye research - 1 Aug 2026

Lin Zichun, Zhang Jinjin, Cai Bo, Li Rui, Li Wenjing, Li Bingtao, Wang Zhenglai, Liu Keyan, Zhuang Wenjuan

Abstract excerpt

Keratoconus (KC) is a progressive corneal ectatic disorder with genetic heterogeneity, yet the genetic variants underlying familial cases remain poorly characterized. We performed Trio-based whole-exome sequencing (Trio-WES) on 243 individuals from 81 KC families in Northwestern China and analyzed rare deleterious variants under three inheritance models. Following stringent quality control and filtering, we...

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Source

Identifiers

PMID: 42162727
DOI: 10.1016/j.exer.2026.111074

Genes

ATAD3A
CDH23
COL6A3
DHX35
SELENBP1
TTN
VPS11

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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