Reichold, Markus ; Klootwijk, Enriko D. ; Reinders, Joerg ; Otto, Edgar A. ; Milani, Mario 
; Broeker, Carsten ; Laing, Chris ; Wiesner, Julia ; Devi, Sulochana ; Zhou, Weibin ; Schmitt, Roland ; Tegtmeier, Ines ; Sterner, Christina ; Doellerer, Hannes ; Renner, Kathrin ; Oefner, Peter J. ; Dettmer, Katja ; Simbuerger, Johann M. ; Witzgall, Ralph ; Stanescu, Horia C. ; Dumitriu, Simona ; Iancu, Daniela ; Patel, Vaksha ; Mozere, Monika ; Tekman, Mehmet ; Jaureguiberry, Graciana ; Issler, Naomi ; Kesselheim, Anne ; Walsh, Stephen B. ; Gale, Daniel P. ; Howie, Alexander J. ; Martins, Joana R. ; Hall, Andrew M. ; Kasgharian, Michael ; O’Brien, Kevin ; Ferreira, Carlos R. ; Atwal, Paldeep S. ; Jain, Mahim ; Hammers, Alexander ; Charles-Edwards, Geoffrey ; Choe, Chi-Un ; Isbrandt, Dirk ; Cebrian-Serrano, Alberto ; Davies, Ben ; Sandford, Richard N. ; Pugh, Christopher ; Konecki, David S. ; Povey, Sue ; Bockenhauer, Detlef ; Lichter-Konecki, Uta ; Gahl, William A. ; Unwin, Robert J. ; Warth, Richard ; Kleta, Robert
; Broeker, Carsten ; Laing, Chris ; Wiesner, Julia ; Devi, Sulochana ; Zhou, Weibin ; Schmitt, Roland ; Tegtmeier, Ines ; Sterner, Christina ; Doellerer, Hannes ; Renner, Kathrin ; Oefner, Peter J. ; Dettmer, Katja ; Simbuerger, Johann M. ; Witzgall, Ralph ; Stanescu, Horia C. ; Dumitriu, Simona ; Iancu, Daniela ; Patel, Vaksha ; Mozere, Monika ; Tekman, Mehmet ; Jaureguiberry, Graciana ; Issler, Naomi ; Kesselheim, Anne ; Walsh, Stephen B. ; Gale, Daniel P. ; Howie, Alexander J. ; Martins, Joana R. ; Hall, Andrew M. ; Kasgharian, Michael ; O’Brien, Kevin ; Ferreira, Carlos R. ; Atwal, Paldeep S. ; Jain, Mahim ; Hammers, Alexander ; Charles-Edwards, Geoffrey ; Choe, Chi-Un ; Isbrandt, Dirk ; Cebrian-Serrano, Alberto ; Davies, Ben ; Sandford, Richard N. ; Pugh, Christopher ; Konecki, David S. ; Povey, Sue ; Bockenhauer, Detlef ; Lichter-Konecki, Uta ; Gahl, William A. ; Unwin, Robert J. ; Warth, Richard ; Kleta, Robert 
Abstract
Background For many patients with kidney failure, the cause and underlying defect remain unknown. Here, we describe a novel mechanism of a genetic order characterized by renal Fanconi syndrome and kidney failure. Methods We clinically and genetically characterized members of five families with autosomal dominant renal Fanconi syndrome and kidney failure. We performed genome-wide linkage analysis, ...
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