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Diverse molecular causes of unsolved autosomal dominant tubulointerstitial kidney diseases

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Wopperer, Florian J. ; Knaup, Karl X. ; Stanzick, Kira J. ; Schneider, Karen ; Jobst-Schwan, Tilman ; Ekici, Arif B. ; Uebe, Steffen ; Wenzel, Andrea ; Schliep, Stefan ; Schürfeld, Carsten ; Seitz, Randolf ; Bernhardt, Wanja ; Gödel, Markus ; Wiesener, Antje ; Popp, Bernt ; Stark, Klaus J. ; Gröne, Hermann-Josef ; Friedrich, Björn ; Weiß, Martin ; Basic-Jukic, Nikolina ; Schiffer, Mario ; Schröppel, Bernd ; Huettel, Bruno ; Beck, Bodo B. ; Sayer, John A. ; Ziegler, Christine ; Büttner-Herold, Maike ; Amann, Kerstin ; Heid, Iris M. ; Reis, André ; Pasutto, Francesca ; Wiesener, Michael S.
Date of publication of this fulltext: 20 Oct 2022 11:27


Autosomal Dominant Tubulointerstitial Kidney Disease (ADTKD) is caused by mutations in one of at least five genes and leads to kidney failure usually in mid adulthood. Throughout the literature, variable numbers of families have been reported, where no mutation can be found and therefore termed ADTKD-not otherwise specified. Here, we aim to clarify the genetic cause of their diseases in our ADTKD ...


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