Variants of BEST1 and CRYBB2 cause a complex ocular phenotype comprising microphthalmia, microcornea, cataract, and vitelliform macular dystrophy: case report

por Shi, Jie, Sun, Tengyang, Xu, Ke, Zhang, Xin, Li, Yang
Publicado 2023

Clinical findings and RS1 genotype in 90 Chinese families with X-linked retinoschisis

por Chen, Chunjie, Xie, Yue, Sun, Tengyang, Tian, Lu, Xu, Ke, Zhang, Xiaohui, Li, Yang
Publicado 2020

Comprehensive Genetic Analysis Unraveled the Missing Heritability and a Founder Variant of BEST1 in a Chinese Cohort With Autosomal Recessive Bestrophinopathy

por Shi, Jie, Tian, Lu, Sun, Tengyang, Zhang, Xiao, Xu, Ke, Xie, Yue, Peng, Xiaoyan, Tang, Xin, Jin, Zi-Bing, Li, Yang
Publicado 2023