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Bone marrow transplantation in Schimke immuno-osseous dysplasia
Schimke immuno-osseous dysplasia (SIOD, OMIM 242900) is a rare autosomal recessive multisystem childhood disorder characterized by short stature, renal failure, T-cell immunodeficiency, and hypersensitivity to genotoxic agents. SIOD is associated with biallelic mutations in SMARCAL1 (SWI/SNF-related...
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| Main Authors: | , , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2013
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3788057/ https://ncbi.nlm.nih.gov/pubmed/23950031 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.36111 |
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