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Early Onset Cerebral Infarction in Schimke Immuno-Osseous Dysplasia
Schimke Immuno-osseous Dysplasia (SIOD) is a rare autosomal recessive disease caused by a biallelic mutation in SMARCAL1 gene. Typical findings in SIOD include spondylo-epiphyseal dysplasia, steroid resistance nephrotic syndrome, progressive renal failure, T-cell immunodeficiency, bone marrow failur...
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| Publicado no: | Iran J Child Neurol |
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| Main Authors: | , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Shahid Beheshti University of Medical Sciences
2018
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6045942/ https://ncbi.nlm.nih.gov/pubmed/30026777 |
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