https://www.selleckchem.com/
PNPK gene mutations result in DNA repair disorders and have a spectrum of neurodevelopmental manifestations. To date, cancer predisposition has not been described in patients with PNKP mutations. Here, we report a patient with PNKP mutation, who developed AML at age of five and underwent reduced-intensity HSCT. Although many DNA repair disorders are known to have increased risk of malignancy, association between PNKP mutations and malignancy is not well-described. This report is the first description of a PNPK mutation patient developing a malignancy and un
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