Macrothrombocytopenia and leukocyte inclusions: May-Hegglin anomaly
Tài liệu tham khảo
Vicente-Manzanares M, Ma X, Adelstein RS, Horwitz AR (2009) Non-muscle myosin II takes centre stage in cell adhesion and migration. Nat Rev Mol Cell Biol 10(11):778–790. https://doi.org/10.1038/nrm2786
Canobbio I, Noris P, Pecci A, Balduini A, Balduini CL, Torti M (2005) Altered cytoskeleton organization in platelets from patients with MYH9-related disease. J Thromb Haemost 3(5):1026–1035. https://doi.org/10.1111/j.1538-7836.2005.01244.x
Bury L, Megy K, Stephens JC, Grassi L, Greene D, Gleadall N et al (2020) Next-generation sequencing for the diagnosis of MYH9-RD: predicting pathogenic variants. Hum Mutat 41(1):277–290. https://doi.org/10.1002/humu.23927
Hsia CC, Xenocostas A (2012) May-Hegglin anomaly. Blood 119(2):328. https://doi.org/10.1182/blood-2010-12-325431
Pecci A, Ma X, Savoia A, Adelstein RS (2018) MYH9: Structure, functions and role of non-muscle myosin IIA in human disease. Gene 20(664):152–167. https://doi.org/10.1016/j.gene.2018.04.048
Sadaf A, Ware RE (2021) Microscope diagnosis of MYH9-related thrombocytopenia. Blood 138(11):1000. https://doi.org/10.1182/blood.2021012044
Fatima S (2012) May hegglin anomaly: rare entity with review of literature. Indian J Hematol Blood Transfus 28(1):58–60. https://doi.org/10.1007/s12288-011-0093-z
Girolami A, Vettore S, Bonamigo E, Fabris F (2011) Thrombotic events in MYH9 gene-related autosomal macrothrombocytopenias (old May-Hegglin, Sebastian, Fechtner and Epstein syndromes). J Thromb Thrombolysis 32(4):474–477. https://doi.org/10.1007/s11239-011-0623-4