Article
Phenotypic spectrum and genetics of PAX2-related disorder in the Chinese cohort.
BMC medical genomics - 25 Oct 2021
Yang Xue, Li Yaqi, Fang Ye, Shi Hua, Xiang Tianchao, Liu Jiaojiao, Liu Jialu, Tang Xiaoshan, Fang Xiaoyan, Chen Jing, Zhai Yihui, Shen Qian, Bi Yunli, Qian Yanyan, Wu Bingbing, Wang Huijun, Zhou Wenhao, Ma Duan, Bai Haitao, Mao Jianhua, Chen Lizhi, Wang Xiaowen, Gao Xiaojie, Zhang Ruifeng, Zhuang Jieqiu, Zhang Aihua, Jiang Xiaoyun, Xu Hong, Rao Jia
Abstract excerpt
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 define the phenotypic spectrum associated with genotype. METHODS: We collected the phenotypes in patients enrolled in the China...
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