%0 Journal Article %A Jianbo Huang %A Xiaogang Bao %A Wenjun Xia %A Lingjun Zhu %A Jin Zhang %A Jing Ma %A Nan Jiang %A Jichun Yang %A Qing Chen %A Tianrui Jing %A Jia Liu %A Duan Ma %A Guohua Xu %T Functional analysis of a de novo mutation c.1692 del A of the PHEX gene in a Chinese family with X-linked hypophosphataemic rickets %D 2019 %J Bone & Joint Research %P 405-413 %V 8 %N 8 %R 10.1302/2046-3758.88.BJR-2018-0276.R1 %U https://doi.org/10.1302/2046-3758.88.BJR-2018-0276.R1 %K Hypophosphataemia,PHEX,Sanger sequencing