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Article

FZD4 in a Large Chinese Population With Familial Exudative Vitreoretinopathy: Molecular Characteristics and Clinical Manifestations.

Investigative ophthalmology & visual science - 1 Apr 2022

Lu Jinglin, Huang Li, Sun Limei, Li Songshan, Zhang Zhaotian, Jiang Zhaoxin, Li Jiaqing, Ding Xiaoyan

Abstract excerpt

Purpose: The purpose of this study was to establish a genotype-phenotype correlation of familial exudative vitreoretinopathy (FEVR) caused by FZD4 gene mutations. Methods: Six hundred fifty-one probands and their family members were recruited based on a clinical diagnosis of FEVR between 2015 and 2021 at Zhongshan Ophthalmic Center. Ocular examinations were performed in all participants. Targeted gene panel...

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PMID: 35394490
DOI: 10.1167/iovs.63.4.7
PMCID: PMC8994167

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