Two novel germline DDX41 mutations in a family with inherited myelodysplasia/acute myeloid leukemia

Abstract excerpt

Though rare, inherited forms of myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML) are being recognized with increasing frequency. Germline mutations in well-characterized genes such as RUNX1, CEBPA, GATA2 and ETV6 have been found to predispose to MDS/AML.[1][1]–[4][2] Families with

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