Intractable thrombocytopenia in a patient with atypical ataxia-telangiectasia: a case report
Abstract Background Ataxia-telangiectasia (A-T) is an infrequent autosomal recessive multisystemic disorder caused by ATM variants. It is characterized by progressive cerebellar ataxia, telangiectasia, susceptibility to malignancies and variable immunodeficiency. Patients have phenotypic heterogenei...
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| Автори: | , , , , , |
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| Формат: | Artigo |
| Мова: | Inglês |
| Опубліковано: |
BMC
2025-10-01
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| Серія: | BMC Medical Genomics |
| Предмети: | |
| Онлайн доступ: | https://doi.org/10.1186/s12920-025-02214-4 |
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