Variable Expressivity of HNF1B Nephropathy, From Renal Cysts and Diabetes to Medullary Sponge Kidney Through Tubulo-interstitial Kidney Disease

Author:

Izzi ClaudiaORCID,Dordoni Chiara,Econimo Laura,Delbarba Elisa,Grati Francesca Romana,Martin Eva,Mazza Cinzia,Savoldi Gianfranco,Rampoldi Luca,Alberici Federico,Scolari Francesco

Publisher

Elsevier BV

Subject

Nephrology

Reference42 articles.

1. Hepatocyte nuclear factor-1beta: a new kindred with renal cysts and diabetes and gene expression in normal human development;Kolatsi-Joannou;J Am Soc Nephrol,2001

2. New insights into the role of HNF-1β in kidney (patho)physiology;Ferrè;Pediatr Nephrol,2019

3. Mutation in hepatocyte nuclear factor-1 beta gene (TCF2) associated with MODY;Horikawa;Nat Genet,1997

4. HNF1B mutations associate with hypomagnesemia and renal magnesium wasting;Adalat;Am Soc Nephrol,2009

5. Spectrum of HNF1B mutations in a large cohort of patients who harbor renal diseases;Heidet;Clin J Am Soc Nephrol,2010

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