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T-cell receptor signaling in Schimke immuno-osseous dysplasia is SMARCAL1-independent
Schimke immuno-osseous dysplasia (SIOD) caused by mutations in SMARCAL1 is an ultra-rare disease characterized by specific facial features, skeletal dysplasia, and steroid-resistant nephrotic syndrome, which often leads to kidney failure and requires transplantation. Cellular (T-cell) deficiency, ly...
| Autores principales: | , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Frontiers Media S.A.
2022
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9623027/ https://www.ncbi.nlm.nih.gov/pubmed/36330520 http://dx.doi.org/10.3389/fimmu.2022.979722 |