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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Detalles Bibliográficos
Autores principales: HOSSEIN BABAEI, Amir, INALOO, Soroor, BASIRATNIA, Mitra, DERAKHSHAN, Ali
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Shahid Beheshti University of Medical Sciences 2018
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6045942/
https://www.ncbi.nlm.nih.gov/pubmed/30026777

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6045942/
https://www.ncbi.nlm.nih.gov/pubmed/30026777

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