Volume 12 (2025)
Volume 11 (2024)
Volume 10 (2023)
Volume 9 (2022)
Volume 8 (2021)
Volume 7 (2020)
Volume 6 (2019)
Volume 5 (2018)
Volume 4 (2017)
Volume 3 (2016)
Volume 2 (2015)
Volume 1 (2014)
Clinical Association of Ataxia Telangiectasia-Like Disorder 1 with an Uncertain Significance Variant in the MRE11 Gene: A Case Report

Bita Barazandeh Shirvan; Javad Akhondian; Parvaneh Layegh; Narges Hashemi; Ehsan Ghayoor Karimiani; Razie Rezaie; Paria Najarzadeh Torbati; mehran beiraghi toosi

Volume 11, Issue 3 , September 2024, , Pages 29-32

https://doi.org/10.22038/rcm.2024.81480.1500

Abstract
  Objective: Ataxia telangiectasia-like disorder (ATLD) is a rare autosomal recessive disorder caused by mutations in the MRE11 gene. The diagnosis of patients with Ataxia telangiectasia-like disorder and Ataxia telangiectasia may be challenging due to similar clinical manifestations. In the present study, ...  Read More

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