Paradoxical autosomal recessive bestrophinopathy-like phenotypes shown in an autosomal dominant pedigree

Hu, F; Li, Q; Shi, J; Wang, R; Zhang, YP; Cao, XY; Zhang, X; Ma, Y; Wang, G; Peng, XY

Hu, F; Peng, XY (通讯作者)，Capital Med Univ, Beijing Tongren Hosp, Beijing Tongren Eye Ctr, Beijing, Peoples R China.;Hu, F; Peng, XY (通讯作者)，Beijing Inst Ophthalmol, Beijing, Peoples R China.;Hu, F; Peng, XY (通讯作者)，Beijing Ophthalmol & Visual Sci Key Lab, Beijing, Peoples R China.;Hu, F; Peng, XY (通讯作者)，Capital Med Univ, Beijing Tongren Hosp, Beijing Inst Ophthalmol, Beijing Ophthalmol & Visual Sci Key Lab, 17 Hougou Lane, Chongnei St, Beijing 100005, Peoples R China.

EUROPEAN JOURNAL OF OPHTHALMOLOGY, 2023; 33 (6): 2131

Abstract

Purpose This study aimed to evaluate the clinical and genetic characteristics of eight members from a Chinese Han family who displayed autosomal reces......

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