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Article

Analysis of candidate variants in a Chinese family with monozygotic twins with keratoconus: a case report.

Ophthalmic genetics - 1 Feb 2025

Song Chunyuan, Wang Kehua, Li Ling, Hu Luping, Bai Jie, Zhao Lin, Liu Chang, Li Shaowei

Abstract excerpt

BACKGROUND: Keratoconus (KC) is an asymmetrical bilateral corneal ectasia, of which the pathogenesis is unknown. Moreover, genetic factors play an important role. We reported ophthalmic findings in a Chinese family with monozygotic twins with KC to describe the clinical features and identify genetic variants. METHODS: Comprehensive ophthalmic clinical assessments and examinations, including history, slit-lamp...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 39544142
DOI: 10.1080/13816810.2024.2427295

Genes

AGBL1
COL6A1
FLG
GRHPR
HAL
HSPG2
KRT82
PDE6G
SCN9A
ZNF469

Variants

Provenance

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

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