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Ataxia telangiectasia: learning from previous mistakes
Ataxia telangiectasia is an early onset neurodegenerative disorder. We report a case of childhood onset ataxia and ocular telangiectasia, presenting with pulmonary infection. The patient was diagnosed as ataxia telangiectasia. The patient succumbed to death owing to late diagnosis and sepsis.
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| Udgivet i: | BMJ Case Rep |
|---|---|
| Main Authors: | , , , |
| Format: | Artigo |
| Sprog: | Inglês |
| Udgivet: |
BMJ Publishing Group
2012
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| Fag: | |
| Online adgang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4544110/ https://ncbi.nlm.nih.gov/pubmed/23242084 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/bcr-2012-007246 |
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