New PAX2 heterozygous mutation in a child with chronic kidney disease: a case report and review of the literature

We herein report a 3-year-old boy presented with chronic kidney disease (CKD) due to PAX2 missense mutation (C to G transversion at position 418 in exon 4).

Source: BMC Nephrology - September 21, 2018 Category: Urology & Nephrology Authors: Li Zhang, Shu-bo Zhai, Leng-yue Zhao, Yan Zhang, Bai-chao Sun and Qing-shan Ma Tags: Case report Source Type: research