Pathogenic PHIP Variants are Variably Associated With CAKUT

Pathogenic PHIP Variants are Variably Associated With CAKUT

Introduction: Congenital anomalies of the kidney and urinary tract (CAKUT) represent the most common cause of chronic kidney disease in children. Although only 20% of cases can be genetically explained, the majority remain without an identified underlying etiology. The neurodevelopmental disorder Ch...

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Main Authors: Jonathan de Fallois, Tobias Sieckmann, Ria Schönauer, Friederike Petzold, Johannes Münch, Melissa Pauly, Georgia Vasileiou, Christin Findeisen, Antje Kampmeier, Alma Kuechler, André Reis, Eva Decker, Carsten Bergmann, Konrad Platzer, Velibor Tasic, Karin Michaela Kirschner, Shirlee Shril, Friedhelm Hildebrandt, Wendy K. Chung, Jan Halbritter
Format: Article
Language:English
Published: Elsevier 2024-08-01
Series:Kidney International Reports
Subjects:
CAKUT
Chung-Jansen syndrome (CHUJANS)
PHIP
Online Access:http://www.sciencedirect.com/science/article/pii/S2468024924017480
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