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

Internet

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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