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...

Fuld beskrivelse

Na minha lista:
Bibliografiske detaljer
Udgivet i:Iran J Child Neurol
Main Authors: HOSSEIN BABAEI, Amir, INALOO, Soroor, BASIRATNIA, Mitra, DERAKHSHAN, Ali
Format: Artigo
Sprog:Inglês
Udgivet: Shahid Beheshti University of Medical Sciences 2018
Fag:
Case Report
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6045942/
https://ncbi.nlm.nih.gov/pubmed/30026777
Tags: Tilføj Tag
Ingen Tags, Vær først til at tagge denne postø!

Lignende værker