Phenotypic spectrum and genetics of PAX2-related disorder in the Chinese cohort

• Main Authors: Xue Yang (Author), Yaqi Li (Author), Ye Fang (Author), Hua Shi (Author), Tianchao Xiang (Author), Jiaojiao Liu (Author), Jialu Liu (Author), Xiaoshan Tang (Author), Xiaoyan Fang (Author), Jing Chen (Author), Yihui Zhai (Author), Qian Shen (Author), Yunli Bi (Author), Yanyan Qian (Author), Bingbing Wu (Author), Huijun Wang (Author), Wenhao Zhou (Author), Duan Ma (Author), Haitao Bai (Author), Jianhua Mao (Author), Lizhi Chen (Author), Xiaowen Wang (Author), Xiaojie Gao (Author), Ruifeng Zhang (Author), Jieqiu Zhuang (Author), Aihua Zhang (Author), Xiaoyun Jiang (Author), Hong Xu (Author), Jia Rao (Author)
• Format: Book
• Published: BMC, 2021-10-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract Background Pathogenic variants of PAX2 cause autosomal-dominant PAX2-related disorder, which includes variable phenotypes ranging from renal coloboma syndrome (RCS), congenital anomalies of the kidney and urinary tract (CAKUT) to nephrosis. Phenotypic variability makes it difficult to defin...