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

INTRODUCTION: In humans, heterozygous mutations of hepatocyte nuclear factor 1beta (HNF1B) are responsible for a dominant inherited disease with both renal and extrarenal phenotypes. HNF1B nephropathy is the umbrella term that includes the various kidney phenotypes of the disease, ranging from conge...

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Detalles Bibliográficos
Autores principales: Izzi, Claudia, Dordoni, Chiara, Econimo, Laura, Delbarba, Elisa, Grati, Francesca Romana, Martin, Eva, Mazza, Cinzia, Savoldi, Gianfranco, Rampoldi, Luca, Alberici, Federico, Scolari, Francesco
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2020
Materias:
Clinical Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7710890/
https://www.ncbi.nlm.nih.gov/pubmed/33305128
http://dx.doi.org/10.1016/j.ekir.2020.09.042

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