Genetic Testing for Steroid-Resistant-Nephrotic Syndrome in an Outbred Population

Volume: 6
Published: Oct 22, 2018
Abstract
Background: Steroid-resistant nephrotic syndrome (SRNS) is a leading cause of end-stage kidney disease in children and young adults. Despite advances in genomic science that have led to the discovery of >50 monogenic causes of SRNS, there are no clear guidelines for genetic testing in clinical practice. Methods: Using high throughput sequencing, we evaluated 492 individuals from 181 families for mutations in 40 known SRNS genes. Causative...
Paper Details
Title
Genetic Testing for Steroid-Resistant-Nephrotic Syndrome in an Outbred Population
Published Date
Oct 22, 2018
Volume
6
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