Tag: Stickler syndrome type 1

Identification of a COL2A1 mutation in a Chinese family with Stickler syndrome type 1 via whole exome sequencing

·Clinical Research· Identification of a COL2A1 mutation in a Chinese family with Stickler syndrome type 1 via whole exome sequencing Deng Fang, Cao Yingjie, Xie Lijing, Chen Shaowan, Xiao Xiaoqiang, Zhang Mingzhi Joint Shantou International Eye Center of Shantou University & The Chinese University of Hong Kong, Shantou 515041, China Corresponding author: Xiao Xiaoqiang, Email: […]