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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Hlavní autoři:	Chunyu Gu, Qingyan Cui, Wang Luo, Shuyue Zhang, Jianbo Shu, Sen Chen
Médium:	Artigo
Jazyk:	Inglês
Vydáno:	BMC 2025-10-01
Edice:	BMC Medical Genomics
Témata:	Ataxia-telangiectasia Thrombocytopenia Immunodeficiency Genetic testing ATM
On-line přístup:	https://doi.org/10.1186/s12920-025-02214-4
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