Reverse Phenotyping after Whole-Exome Sequencing in Steroid-Resistant Nephrotic Syndrome

BACKGROUND AND OBJECTIVES: Nephrotic syndrome is a typical presentation of genetic podocytopathies but occasionally other genetic nephropathies can present as clinically indistinguishable phenocopies. We hypothesized that extended genetic testing followed by reverse phenotyping would increase the di...

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Bibliografiske detaljer
Udgivet i:Clin J Am Soc Nephrol
Main Authors: Landini, Samuela, Mazzinghi, Benedetta, Becherucci, Francesca, Allinovi, Marco, Provenzano, Aldesia, Palazzo, Viviana, Ravaglia, Fiammetta, Artuso, Rosangela, Bosi, Emanuele, Stagi, Stefano, Sansavini, Giulia, Guzzi, Francesco, Cirillo, Luigi, Vaglio, Augusto, Murer, Luisa, Peruzzi, Licia, Pasini, Andrea, Materassi, Marco, Roperto, Rosa Maria, Anders, Hans-Joachim, Rotondi, Mario, Giglio, Sabrina Rita, Romagnani, Paola
Format: Artigo
Sprog:Inglês
Udgivet: American Society of Nephrology 2020
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Original Articles
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6946071/
https://ncbi.nlm.nih.gov/pubmed/31831576
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.2215/CJN.06060519
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