Low renal but high extrarenal phenotype variability in Schimke immuno-osseous dysplasia.
Schimke immuno-osseous dysplasia (SIOD) is a rare multisystem disorder with early mortality and steroid-resistant nephrotic syndrome (SRNS) progressing to end-stage kidney disease. We hypothesized that next-generation gene panel sequencing may unsurface oligosymptomatic cases of SIOD with potentiall...
Main Authors: | , , , , , , , , , , , , , , , , , , , , , , , , |
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Format: | Article |
Language: | English |
Published: |
Public Library of Science (PLoS)
2017-01-01
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Series: | PLoS ONE |
Online Access: | http://europepmc.org/articles/PMC5552097?pdf=render |