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Genetic Background and Clinicopathologic Features of Adult-onset Nephronophthisis

7 Mar 2021

Abstract excerpt

INTRODUCTION: Recently, nephronophthisis (NPH) has been considered a monogenic cause of end-stage renal disease (ESRD) in adults. However, adult-onset NPH is difficult to accurately diagnose and has not been reported in a cohort study. In this study, we assessed the genetic background and clinicopathologic features of adult NPH. METHODS: We investigated 18 sporadic adult patients who were suspected as having NPH...

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PMID: 34013113
DOI: 10.1016/j.ekir.2021.02.005

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