Article
Clinical and pathological features and varied mutational spectra of pathogenic genes in 55 Chinese patients with nephronophthisis.
Clinica chimica acta; international journal of clinical chemistry - 1 Jul 2020
Yue Zhihui, Lin Hongrong, Li Min, Wang Haiyan, Liu Ting, Hu Miaoyue, Chen Huamu, Tong Huajuan, Sun Liangzhong
Abstract excerpt
BACKGROUND: Nephronophthisis (NPHP) is the most common genetic cause of end-stage renal disease (ESRD) in children. This study was performed to explore the pathogenic gene mutations and clinical and pathological features of Chinese patients with NPHP. METHODS: Patients for whom causative mutations were not identified in our previous study, as well as those recruited later, were subjected to whole-exome...
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