Clinical features and genotypes of 20 patients with nephronophthisis associated with NPHP1 gene defect  

作　　者：LAI Jiayong 赖佳泳(Dept Pediatr,Nanfang Hosp,South Med Univ,Guangzhou 510515,China)

机构地区：[1]Dept Pediatr,Nanfang Hosp,South Med Univ,Guangzhou 510515,China

出　　处：《China Medical Abstracts(Internal Medicine)》2024年第3期181-182,共2页中国医学文摘（内科学分册英文版）

摘　　要：Objective To explore the clinical features and genotypes of patients with nephronophthisis type 1(NPH1) associated with NPHP1 gene defect.Methods It was a case series analysis.Clinical data and blood samples of patients who were suspected of NPH1 were collected retrospectively.

关 键 词：PATIENTS CLINICAL NPHP1 

分 类 号：R692[医药卫生—泌尿科学]