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  • Ataxia-telangiectasia is characterized by progressive cerebellar ataxia, oculomotor apraxia, telangiectasias of the conjunctiva and skin, immunodeficiency, sensitivity to ionizing radiation and an increased rate of malignancies, in particular lymphoma and leukemia (13???15).Women who carry pathogenic ATM mutations have an increased risk of breast cancer (14???16).
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