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...

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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2017
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5552097/
https://www.ncbi.nlm.nih.gov/pubmed/28796785
http://dx.doi.org/10.1371/journal.pone.0180926

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