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

doi:10.2215/CJN.06060519

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Article

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

Clinical journal of the American Society of Nephrology : CJASN - 7 Jan 2020

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

Abstract excerpt

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 diagnostic rate for these patients. DESIGN, SETTING, PARTICIPANTS, & MEASUREMENTS: All patients diagnosed with...

Topics

Biopsy
Child
Child, Preschool
Female
Genetic Predisposition to Disease
Genetic Variation
Humans
Kidney Function Tests

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Kidney Transplantation

Male

Nephrotic Syndrome

Phenotype

Predictive Value of Tests

Prognosis

Reproducibility of Results

Retrospective Studies

Exome Sequencing

Workflow

Source

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Identifiers

PMID: 31831576
DOI: 10.2215/CJN.06060519
PMCID: PMC6946071

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