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15 p, 1.9 MB Clinical and genetic spectra of autosomal dominant tubulointerstitial kidney disease due to mutations in UMOD and MUC1 / Olinger, Eric (Newcastle University) ; Hofmann, Patrick (Hospital Uster) ; Kidd, Kendrah (Charles University) ; Dufour, Inès (Division of Nephrology. Cliniques Universitaires Saint-Luc) ; Belge, Hendrica (Institute of Pathology and Genetics) ; Schaeffer, Céline (San Raffaele Scientific Institute) ; Kipp, Anne (University of Zurich) ; Bonny, Olivier (Lausanne University Hospital) ; Deltas, Constantinos (University of Cyprus) ; Demoulin, Nathalie (Université catholique de Louvain) ; Fehr, Thomas (Cantonal Hospital Graubuenden) ; Fuster, Daniel G. (Inselspital Bern University Hospital) ; Gale, Daniel (University College of London) ; Goffin, Eric (Université catholique de Louvain) ; Hodaňová, Kateřina (Charles University) ; Huynh-Do, Uyen (Inselspital Bern University Hospital) ; Kistler, Andreas (Cantonal Hospital Frauenfeld) ; Morelle, Johann (Université catholique de Louvain) ; Papagregoriou, Gregory (University of Cyprus) ; Pirson, Yves (Cliniques Universitaires Saint-Luc) ; Sandford, Richard (Cambridge Biomedical Campus) ; Sayer, John (Newcastle University) ; Torra Balcells, Roser (Institut d'Investigació Biomèdica Sant Pau) ; Venzin, Christina (Hospital Davos) ; Venzin, Reto (Cantonal Hospital Graubuenden) ; Vogt, Bruno (Inselspital Bern University Hospital) ; Živná, Martina (Charles University) ; Greka, Anna (Massachusetts Institute of Technology) ; Dahan, Karin (Institute of Pathology and Genetics) ; Rampoldi, Luca (San Raffaele Scientific Institute) ; Kmoch, Stanislav (Charles University) ; Bleyer, Anthony (Charles University) ; Devuyst, Olivier (Cliniques Universitaires Saint-Luc) ; Universitat Autònoma de Barcelona
Autosomal dominant tubulointerstitial kidney disease (ADTKD) is an increasingly recognized cause of end-stage kidney disease, primarily due to mutations in UMOD and MUC1. The lack of clinical recognition and the small size of cohorts have slowed the understanding of disease ontology and development of diagnostic algorithms. [...]
2020 - 10.1016/j.kint.2020.04.038
Kidney International, Vol. 98 Núm. 3 (september 2020) , p. 717-731  
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1 Hofmann, Pascal
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