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

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

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_plos_journals_1927808035

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

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United States: Public Library of Science

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Contents

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 an...

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Full title

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

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Record Identifier

TN_cdi_plos_journals_1927808035

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_plos_journals_1927808035

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ISSN

1932-6203

E-ISSN

1932-6203

DOI

10.1371/journal.pone.0180926

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