CCN6 mutation detection in Chinese patients with progressive pseudo-rheumatoid dysplasia and identification of four novel mutations.
Yingjie WangKe XiaoYuemei YangZhihong WuJin JinGuixing QiuXisheng WengXiuli ZhaoPublished in: Molecular genetics & genomic medicine (2020)
Our findings increase the clinical data of PPD including the CCN6 mutation spectrum, the clinical symptoms and signs. Moreover, the study highlights the utility of WES in reaching definitive diagnoses for PPD.