A Novel Missense Mutation (L44V) of PAX2 Associated with Adult-Onset End-Stage Renal Disease and No Syndromic Features.

We report a novel PAX2 mutation identified by exome sequencing in a family with adult ESRD in the absence of other congenital syndromic features.
PMID: 33067217 [PubMed - in process]

Source: Annals of Clinical and Laboratory Science - September 1, 2020 Category: Laboratory Medicine Authors: Oh SH, Keum C, Her M, Chung WY, Kim YH, Kim T Tags: Ann Clin Lab Sci Source Type: research