Recent advances in the understanding and management of MYH9-related inherited thrombocytopenias.

Abstract excerpt

MYH9-related disease (MYH9-RD) is one of the most frequent forms of inherited thrombocytopenia. It is transmitted in an autosomal dominant fashion and derives from mutations of MYH9, the gene for the heavy chain of non-muscle myosin IIA. Patients present with congenital macrothrombocytopenia with mild bleeding tendency and may develop kidney dysfunction, deafness and cataracts later in life. The term MYH9-RD...

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• Disease Models, Animal
• Genetic Predisposition to Disease
• Genotype
• Mice
• Molecular Motor Proteins