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

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

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...

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Bibliographic Details
Main Authors: Xue Yang, Yaqi Li, Ye Fang, Hua Shi, Tianchao Xiang, Jiaojiao Liu, Jialu Liu, Xiaoshan Tang, Xiaoyan Fang, Jing Chen, Yihui Zhai, Qian Shen, Yunli Bi, Yanyan Qian, Bingbing Wu, Huijun Wang, Wenhao Zhou, Duan Ma, Haitao Bai, Jianhua Mao, Lizhi Chen, Xiaowen Wang, Xiaojie Gao, Ruifeng Zhang, Jieqiu Zhuang, Aihua Zhang, Xiaoyun Jiang, Hong Xu, Jia Rao
Format: Article
Language:English
Published: BMC 2021-10-01
Series:BMC Medical Genomics
Subjects:
Congenital anomalies of the kidneys and urinary tract (CAKUT)
PAX2
Renal coloboma syndrome (RCS)
Phenotypic cluster analysis
Online Access:https://doi.org/10.1186/s12920-021-01102-x

Internet

https://doi.org/10.1186/s12920-021-01102-x

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