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

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 diagnostic rate for these pat...

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Veröffentlicht in:	Clinical journal of the American Society of Nephrology 2020-01, Vol.15 (1), p.89-100
Hauptverfasser:	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:	Artikel
Sprache:	eng
Schlagworte:	Biopsy Child Child, Preschool Exome Sequencing Female Genetic Predisposition to Disease Genetic Variation Humans Kidney Function Tests Kidney Transplantation Male Nephrotic Syndrome - congenital Nephrotic Syndrome - diagnosis Nephrotic Syndrome - genetics Nephrotic Syndrome - surgery Original Phenotype Predictive Value of Tests Prognosis Reproducibility of Results Retrospective Studies Workflow
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