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Article

A genetic investigation in five Chinese families with keratoconus.

PeerJ - 1 Jan 2024

Lin Qinghong, Wang Xuejun, Peng Xiaoliao, Han Tian, Sun Ling, Zhang Xiaoyu, Zhou Xingtao

Abstract excerpt

Background: This study investigated the genetic characteristics of five Chinese families with keratoconus (KC). Methods: In the five families affected by KC, medical records, clinical observations, and blood samples were collected from all individuals. All KC family members (n = 20) underwent both whole exome sequencing of genomic DNA and Sanger sequencing to confirm the variants. Online software was utilized to...

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Source

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Identifiers

PMID: 39238827
DOI: 10.7717/peerj.18037
PMCID: PMC11376248

Genes

DOP1B
EML6
HOMER3
IGF1R
NBEAL2

Variants

Provenance

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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