Figure 2.
Additional genetic findings in a family initially diagnosed with RUNX1 FPD-MM. The original diagnosis was obtained using Sanger sequencing of the RUNX1 gene and identified RUNX1 R320∗ (red +). Subsequent NGS revealed an additional pathogenic DDX41 variant K108Sfs∗3 (blue +) and an ANKRD26 M1I VUS (green +) in some family members.