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April 2024 QQ: MYH9 Mutation

Molecular diagnostic methods have defined scores of platelet disorders that by phenotype alone were categorized as production or functional disorders. Our April 2024 Quick Question is a quiz that “scratches the surface” by asking what disorder or syndrome is part of the MYH9 gene mutation family.

For a look at molecular diagnostics practical applications, see the attached open-access article: Gresele P, Falcinelli E, Bury L, et al. Association of laboratory test results with the bleeding history in patients with inherited platelet function disorders (the Bleeding Assessment Tool – LABoratory tests substudy): communication from the Platelet Physiology ISTH-SSC. Res Pract Thromb Haemost. 2023; 8: 102305. doi: 10.1016/j.rpth.2023.102305.

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