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ATM germ line pathogenic variants affect outcomes in children with ataxia-telangiectasia and hematological malignancies

25 Jun 2024

Abstract excerpt

ABSTRACT: Ataxia-telangiectasia (A-T) is an autosomal-recessive disorder caused by pathogenic variants (PVs) of the ATM gene, predisposing children to hematological malignancies. We investigated their characteristics and outcomes to generate data-based treatment recommendations. In this multinational, observational study we report 202 patients aged ≤25 years with A-T and hematological malignancies from 25...

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PMID: 38917355
DOI: 10.1182/blood.2024024283

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