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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...
Autores principales: | , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2020
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7216528/ https://www.ncbi.nlm.nih.gov/pubmed/32393263 http://dx.doi.org/10.1186/s12882-020-01809-6 |