familial platelet disorder with propensity to myeloid malignancy(English)

• a rare autosomal dominant platelet disorder caused by heterozygous mutations in RUNX1 (OMIM#601399), characterized by thrombocytopenia, abnormal platelet function and an increased risk of developing other blood disorders or cancers such as myelodysplastic syndrome and acute myeloid leukemia; aka familial platelet disorder with predisposition to acute myeloid leukemia (FPD/AML), or familial platelet disorder with associated myeloid malignancy
• AML, FPD, MDS, RUNX1
• Congenital disorders, Thrombocyte /thrombosis
• https://doi.org…scr.2019.101603