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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.
Wedi'i Gadw mewn:
| Cyhoeddwyd yn: | BMJ Case Rep |
|---|---|
| Prif Awduron: | , , , |
| Fformat: | Artigo |
| Iaith: | Inglês |
| Cyhoeddwyd: |
BMJ Publishing Group
2012
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| Pynciau: | |
| Mynediad Ar-lein: | 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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