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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| Hlavní autoři: | , |
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| Médium: | Artigo |
| Jazyk: | Inglês |
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Universidad Nacional de Colombia
2020-07-01
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| Edice: | Case Reports |
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| On-line přístup: | https://revistas.unal.edu.co/index.php/care/article/view/83219 |
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