Ataxia telangiectasia: A diagnostic challenge. Case report
Introduction: Ataxia-telangiectasia (AT) is a neurodegenerative syndrome with low incidence and prevalence worldwide, which is caused by a mutation of the ATM gene. It is an autosomal recessive disorder that is associated with defective cell regeneration and DNA repair mechanisms. It is characteriz...
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| Principais autores: | , |
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| Format: | Artigo |
| Sprog: | Inglês |
| Udgivet: |
Universidad Nacional de Colombia
2020-07-01
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| Serier: | Case Reports |
| Fag: | |
| Online adgang: | https://revistas.unal.edu.co/index.php/care/article/view/83219 |
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