Clinical Association of Ataxia Telangiectasia-Like Disorder 1 with an Uncertain Significance Variant in the MRE11 Gene: A Case Report

Clinical Association of Ataxia Telangiectasia-Like Disorder 1 with an Uncertain Significance Variant in the MRE11 Gene: A Case Report

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 s...

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Main Authors: Bita Barazandeh Shirvan, Javad Akhondian, Parvaneh Layegh, Narges Hashemi, Ehsan Ghayoor Karimiani, Razie Rezaie, Paria Najarzadeh Torbati, mehran beiraghi toosi
Format: Article
Language:English
Published: Mashhad University of Medical Sciences 2024-10-01
Series:Reviews in Clinical Medicine
Subjects:
keywords: ataxia telangiectasia-like disorder
mre11
vus
wes
Online Access:https://rcm.mums.ac.ir/article_25054_d8c83a45c93cdd71a54335eb12fdfda7.pdf
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