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以色列 Phelan-McDermid 综合征患者的临床特征与医疗管理研究成果显著
研究人员为建立以色列 Phelan-McDermid 综合征(PMS)数据库开展研究,揭示多种临床特征及治疗情况,为临床研究奠基。 Phelan-McDermid 综合征(PMS)是一种极为罕见的神经发育障碍疾病,犹如隐藏在人体基因深处的 “神秘杀手”。它主要由 SHANK3 基因的单倍体不足 ...
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