Atypical ADPKD Due to a Pathogenic Variant: An Educational Case Report

Rationale: Due to next-generation sequencing, variants in new genes such as DNAJB11 are recently being identified as causing atypical autosomal dominant polycystic kidney disease (ADPKD). It is important to describe phenotypes associated with these variants in order to increase awareness among clini...

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Bibliographic Details
Main Authors: Jessica Kachmar, Zaki El-Haffaf, Guillaume Bollée
Format: Article
Language:English
Published: SAGE Publishing 2023-10-01
Series:Canadian Journal of Kidney Health and Disease
Online Access:https://doi.org/10.1177/20543581231203054