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Update on the Phenotypic and Genotypic Spectrum of KIF11-Related Retinopathy.

Genes - 18 Apr 2022

Wang You, Zhang Zhaotian, Huang Li, Sun Limei, Li Songshan, Zhang Ting, Ding Xiaoyan

Abstract excerpt

Background: This study aimed to report the frequency of KIF11-mutations in a large familial exudative vitreoretinopathy (FEVR) population, extend the clinical spectrum of KIF11-associated retinopathy and compare KIF11-associated retinopathy to FEVR with mutations in other genes. Methods: Genetic data collected from 696 FEVR families were reviewed. The ocular phenotypes in patients with KIF11 mutations were...

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Identifiers

PMID: 35456519
DOI: 10.3390/genes13040713
PMCID: PMC9031442

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