Novel mutation in TSPAN12 associated with familial exudative vitreoretinopathy in a Chinese pedigree

Song, Z; Li, M; Wang, C; Wang, Y; Zhang, LH; Li, N; Yang, RF; Sun, P

Sun, P (通讯作者),Shandong Univ, Ctr Prenatal Diag, Qilu Hosp, 107 Wenhua West Rd, Jinan 250012, Shandong, Peoples R China.

OPHTHALMIC GENETICS, 2022; 43 (1): 104

Abstract

Background Familial exudative vitreoretinopathy (FEVR) is a rare retinal disorder characterised by incomplete retinal vascular development. Symptoms v......

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