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中文Stormorken Syndrome (STRMK)
Alias:
Thrombocytopathy, Asplenia, and Miosis
Stormorken-Sjaastad-Langslet Syndrome
Thrombocytopathy-Asplenia-Miosis Syndrome
York Platelet Syndrome
Strmk
Yps
Thrombocytopathy, Asplenia and Miosis
Miosis Disorder
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Stormorken 综合征，又称血小板病、脾缺如和瞳孔缩小，与肌病、管状聚集和免疫缺陷有关 1, 10，并且有症状包括瞳孔扩大、强直性瞳孔和头痛。与 Stormorken 综合征有关的重要基因是 STIM1 (Stromal Interaction Molecule 1)，其相关通路/超通路包括血小板胞质钙离子升高的反应和心脏传导。相关组织包括眼睛和脾脏，相关表型为身材矮小和鱼鳞病
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