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Schimke immunoosseous dysplasia: an ultra-rare disease. a 20-year case series from the tertiary hospital in the Czech Republic

BACKGROUND: Schimke immunoosseous dysplasia (SIOD) is an ultra-rare inherited disease affecting many organ systems. Spondyloepiphyseal dysplasia, T-cell immunodeficiency and steroid resistant nephrotic syndrome are the main symptoms of this disease. CASE PRESENTATION: We aimed to characterize the cl...

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Detalles Bibliográficos
Autores principales:	Zieg, Jakub, Bezdíčka, Martin, Němčíková, Michaela, Balaščáková, Miroslava, Suková, Martina, Štěrbová, Katalin, Vondrák, Karel, Dušek, Jiří, Křepelová, Anna
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2023
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9850320/ https://www.ncbi.nlm.nih.gov/pubmed/36658659 http://dx.doi.org/10.1186/s13052-023-01413-y

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