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Author = Ghayoor Karimiani, Ehsan

Number of Articles: 1
Misdiagnosed Aicardi Goutières Syndrome Patient: A Case Report

Mohammad Moein Vakilzadeh; Najmeh Ahangari; Ehsan Ghayoor Karimiani; Mehran Beiraghi Toosi

Volume 8, Issue 4 , December 2021, , Pages 194-196

https://doi.org/10.22038/rcm.2022.56005.1357

Abstract
  Aicardi Goutiere’s syndrome is an autosomal recessive neurodegenerative disorder. Its clinical signs usually mimic TORCH-like clinical signs; which makes the differential diagnosis difficult. Here, we report a case with one homozygous pathogenic mutation c.529G>A p.Ala177Thr on RNASEH2B gene ...  Read More