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中文Myh-9 Related Disease
Alias:
Myh9-Related Disorder
Myh9-Related Disease
Myh9-Related Syndromic Thrombocytopenia
Myh9-Related Syndrome
Myh9-Rd
Autosomal Dominant Myh9 Spectrum Disorders
Myh9-Related Macrothrombocytopenias
Sebastian Syndrome
Myh9rd
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Myh-9相关疾病，也称为myh9相关障碍，与巨血小板减少症和伴有或不伴有肾炎或感觉神经性听力损失和耳聋的粒细胞内包涵体有关，常染色体显性17。与Myh-9相关疾病有关的重要基因是MYH9（肌球蛋白重链9），其相关通路/超级通路包括PAK通路和对血小板胞质Ca2+升高的反应。附属组织包括肾脏和肝脏，相关表型为先天性血小板减少症和感觉神经性听力障碍。
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MALACARDS
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