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Podocytic infolding in Schimke immuno-osseous dysplasia with novel SMARCAL1 mutations: a case report
BACKGROUND: Schimke immuno-osseous dysplasia (SIOD) is a rare autosomal recessive disorder characterized by spondyloepiphyseal dysplasia, progressive renal insufficiency and defective cellular immunity. Podocytic infolding glomerulopathy (PIG) is a newly proposed disease entity characterized by micr...
Shranjeno v:
| izdano v: | BMC Nephrol |
|---|---|
| Main Authors: | , , , , , |
| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
BioMed Central
2020
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| Teme: | |
| Online dostop: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7216528/ https://ncbi.nlm.nih.gov/pubmed/32393263 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12882-020-01809-6 |
| Oznake: |
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