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

Volume: 15, Issue: 1, Pages: 89 - 100
Published: Dec 12, 2019
Abstract
Visual Abstract Export 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 nephrotic syndrome...
Paper Details
Title
Reverse Phenotyping after Whole-Exome Sequencing in Steroid-Resistant Nephrotic Syndrome
Published Date
Dec 12, 2019
Volume
15
Issue
1
Pages
89 - 100
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