Ocular Features and Mutation Spectrum of Patients With Familial Exudative Vitreoretinopathy.

Tianchang Tao,Ningda Xu,Jiarui Li,Hongyan Li,Jinfeng Qu,Hong Yin,Jianhong Liang,Mingwei Zhao,Xiaoxin Li,Lvzhen Huang

Investigative ophthalmology & visual science（2021）

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摘要

Our results present profound phenotypic variability and a wide mutation spectrum of FEVR in the Chinese population, which could be useful for a precise and comprehensive genetic diagnosis for patients with FEVR in the future.

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关键词

familial exudative vitreoretinopathy,inheritance,ocular manifestation,retinal vascular development

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