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

por Peng, Li, Dai, Erkuan, Xiao, Haodong, Zhao, Rulian, He, Yunqi, Li, Shujin, Yang, Mu, Yang, Zhenglin, Zhao, Peiquan
Publicado 2022

Defective EMC1 drives abnormal retinal angiogenesis via Wnt/β-catenin signaling and may be associated with the pathogenesis of familial exudative vitreoretinopathy

por Li, Shujin, Yang, Mu, Zhao, Rulian, Peng, Li, Liu, Wenjing, Jiang, Xiaoyan, He, Yunqi, Dai, Erkuan, Zhang, Lin, Yang, Yeming, Shi, Yi, Zhao, Peiquan, Yang, Zhenglin, Zhu, Xianjun
Publicado 2022

CTNND1 variants cause familial exudative vitreoretinopathy through the Wnt/cadherin axis

por Yang, Mu, Li, Shujin, Huang, Li, Zhao, Rulian, Dai, Erkuan, Jiang, Xiaoyan, He, Yunqi, Lu, Jinglin, Peng, Li, Liu, Wenjing, Zhang, Zhaotian, Jiang, Dan, Zhang, Yi, Jiang, Zhilin, Yang, Yeming, Zhao, Peiquan, Zhu, Xianjun, Ding, Xiaoyan, Yang, Zhenglin
Publicado 2022