Novel mutation of IFT140 in an infant with Mainzer-Saldino syndrome presenting with retinal dystrophy

por Yeh, Tsai-Chu, Niu, Dau-Ming, Cheng, Hui-Chen, Chen, Yun-Ru, Chen, Li-Zhen, Tsui, Shu-Ping, Liao, Ting-Wei Ernie, Wang, An-Guor, Yang, Chia-Feng
Publicado 2022