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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Bibliografiska uppgifter
I publikationen:Iran J Child Neurol
Huvudupphovsmän: HOSSEIN BABAEI, Amir, INALOO, Soroor, BASIRATNIA, Mitra, DERAKHSHAN, Ali
Materialtyp: Artigo
Språk:Inglês
Publicerad: Shahid Beheshti University of Medical Sciences 2018
Ämnen:
Case Report
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC6045942/
https://ncbi.nlm.nih.gov/pubmed/30026777
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