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Article

Novel variants in familial exudative vitreoretinopathy patients with KIF11 mutations and the Genotype-Phenotype correlation.

Experimental eye research - 1 Oct 2020

Chen Chonglin, Sun Limei, Li Songshan, Huang Li, Zhang Ting, Wang Zhirong, Yu Bilin, Luo Xiaoling, Ding Xiaoyan

Abstract excerpt

Familial exudative vitreoretinopathy (FEVR) is an inherited disease characterized by abnormal development of retinal vasculature. KIF11 mutations were identified to be associated with FEVR in recent years. The purpose of this study was to investigate novel variants and describe associated ocular and extraocular phenotypes in FEVR patients with KIF11 mutations. Herein, 417 probands with clinical diagnosis of FEVR...

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PMID: 32730767
DOI: 10.1016/j.exer.2020.108165

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