A novel frameshift variant in the TSPAN12 gene causes autosomal dominant FEVR

Peng, L; Dai, EK; Xiao, HD; Zhao, RL; He, YQ; Li, SJ; Yang, M; Yang, ZL; Zhao, PQ

Yang, ZL (通讯作者)，Chinese Acad Sci, Sichuan Translat Med Hosp, Nat Prod Res Ctr, Inst Chengdu Biol, Chengdu, Peoples R China.;Zhao, PQ (通讯作者)，Shanghai Jiao Tong Univ, Dept Ophthalmol, Xinhua Hosp, Sch Med, Shanghai, Peoples R China.

MOLECULAR GENETICS & GENOMIC MEDICINE, 2022; 10 (6):

Abstract

Background: Familial exudative vitreoretinopathy (FEVR) is an inherited blinding eye disease with abnormal retinal vascular development. We aim to bro......

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