CCN6 mutation detection in Chinese patients with progressive pseudo ‐rheumatoid dysplasia and identification of four novel mutations

ConclusionOur findings increase the clinical data of PPD including theCCN6 mutation spectrum, the clinical symptoms and signs. Moreover, the study highlights the utility of WES in reaching definitive diagnoses for PPD.

Source: Molecular Genetics & Genomic Medicine - April 28, 2020 Category: Genetics & Stem Cells Authors: Yingjie Wang, Ke Xiao, Yuemei Yang, Zhihong Wu, Jin Jin, Guixing Qiu, Xisheng Weng, Xiuli Zhao Tags: ORIGINAL ARTICLE Source Type: research