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Stephanie Grasso

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Case report Open access Sep 2026

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...

Miriana Carmela Limoli, G. Santuccio, U. Markovic et al. · 0 citations

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