Whole exome sequencing revealed 14 variants in NDP, FZD4, LRP5, and TSPAN12 genes for 20 families with familial exudative vitreoretinopathy

• मुख्य लेखकों: Handong Dan (लेखक), Dongdong Wang (लेखक), Zixu Huang (लेखक), Qianqian Shi (लेखक), Miao Zheng (लेखक), Yuanyuan Xiao (लेखक), Zongming Song (लेखक)
• स्वरूप: पुस्तक
• प्रकाशित: BMC, 2022-03-01T00:00:00Z.
• विषय: article
• ऑनलाइन पहुंच: Connect to this object online.

Abstract Background Familial exudative vitreoretinopathy (FEVR) is a complex form of blindness-causing retinal degeneration. This study investigated the potential disease-causing variants in 20 Chinese families with FEVR. Methods All available family members underwent detailed ophthalmological exami...