Article
Next-generation sequencing reveals a novel pathogenic variant in the ATM gene.
The International journal of neuroscience - 1 Jun 2022
Pourahmadiyan Azam, Alipour Paria, Golchin Neda, Tabatabaiefar Mohammad Amin
Abstract excerpt
INTRODUCTION: Ataxia telangiectasia (A-T) is a rare autosomal recessive, multisystemic disease. Patients with the A-T syndrome present a broad spectrum of disease phenotypes. The ATM (ataxia telangiectasia mutated) gene, the only causative gene for A-T. METHOD: A patient of Persian origin presenting with typical A-T was referred to our genetics centre for specialized genetic counselling and testing. Targeted...
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