From delayed recognition to long-term disease control: Eltrombopag in severe MYH9-related disease.
Variants in MYH9, which encodes the heavy chain isoform A of non-muscle myosin class II, cause MYH9-related disease (MYH9-RD), a rare inherited disorder characterized by congenital macrothrombocytopenia and several extra-hematologic manifestations. Its phenotypic heterogeneity may hinder prompt recognition or lead to m...