Low renal but high extrarenal phenotype variability in Schimke immuno-osseous dysplasia.

doi:10.1371/journal.pone.0180926

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Article

Low renal but high extrarenal phenotype variability in Schimke immuno-osseous dysplasia.

PloS one - 1 Jan 2017

Lipska-Ziętkiewicz Beata S, Gellermann Jutta, Boyer Olivia, Gribouval Olivier, Ziętkiewicz Szymon, Kari Jameela A, Shalaby Mohamed A, Ozaltin Fatih, Dusek Jiri, Melk Anette, Bayazit Aysun K, Massella Laura, Hyla-Klekot Lidia, Habbig Sandra, Godron Astrid, Szczepańska Maria, Bieniaś Beata, Drożdż Dorota, Odeh Rasha, Jarmużek Wioletta, Zachwieja Katarzyna, Trautmann Agnes, Antignac Corinne, Schaefer Franz

Abstract excerpt

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 potentially milder disease courses. We analyzed the renal and extrarenal phenotypic spectrum and genotype-phenotype...

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Identifiers

PMID: 28796785
DOI: 10.1371/journal.pone.0180926
PMCID: PMC5552097

Genes

SMARCAL1

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