Abstract:Inherited thrombocytopenias (ITs) are rare, clinically and genetically heterogeneous diseases caused by mutations in more than 30 genes. Considering that they account for approximately 50% of the cases, many other genetic unknown factors are likely to be involved. The IT genes encode for proteins playing numerous functions, participating in the different steps of megakaryopoiesis, such as differentiation and production of mature megakaryocytes, and platelet release in the blood stream. Mutations impairing any … Show more
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