Article
Clinic, pathogenic mechanisms and drug testing of two inherited thrombocytopenias, ANKRD26-related Thrombocytopenia and MYH9-related diseases.
European journal of medical genetics - 1 Nov 2018
Balduini Alessandra, Raslova Hana, Di Buduo Christian A, Donada Alessandro, Ballmaier Matthias, Germeshausen Manuela, Balduini Carlo L
Abstract excerpt
Inherited thrombocytopenias (ITs) are a heterogeneous group of disorders characterized by low platelet count resulting in impaired hemostasis. Patients can have spontaneous hemorrhages and/or excessive bleedings provoked by hemostatic challenges as trauma or surgery. To date, ITs encompass 32 different rare monogenic disorders caused by mutations of 30 genes. This review will focus on the major discoveries that...
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