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Article

Intractable thrombocytopenia in a patient with atypical ataxia-telangiectasia: a case report.

BMC medical genomics - 17 Oct 2025

Gu Chunyu, Cui Qingyan, Luo Wang, Zhang Shuyue, Shu Jianbo, Chen Sen

Abstract excerpt

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 heterogeneity, especially those with variant A-T form, posing challenges for early diagnosis and intervention. CASE PRESENTATION:...

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Identifiers

PMID: 41107934
DOI: 10.1186/s12920-025-02214-4
PMCID: PMC12535115

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ATM

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