Phenotype and genotype spectra of a Chinese cohort with nephronophthisis-related ciliopathy.
Xiaoshan TangCuihua LiuXiaorong LiuJing ChenXiaoyan FanJialu LiuDuan MaGuanghai CaoZhi ChenDaliang XuYing ZhuXiaoyun JiangLizhi ChengYubing WuLing HouYuhong LiXiaoshan ShaoShasha ZhengAihua ZhangBixia ZhengShan JianZanhua RongQingxiao SuXia GaoJia RaoQian ShenHong Xunull nullnull nullPublished in: Journal of medical genetics (2020)
The Chinese Children Genetic Kidney Disease Database registry characterised the spectrum of the phenotype and genotype of NPHP-RC in the Chinese population. NPHP1 and NPHP3 were the most common pathogenic genes. Rapid progression to ESRD and liver involvement were noted in patients with NPHP3 mutations.