罕见疾病:分子诊断的实施,病原体洞察力和精准医学治疗

Lidia Larizza1, Maria Vittoria Cubellis2,3,4

  • 1Experimental Research Laboratory of Medical Cytogenetics and Molecular Genetics, IRCCS Istituto Auxologico Italiano, Via Ariosto 13, 20145 Milan, Italy.

概括

罕见疾病 (RD) 缺乏普遍的定义,标准在全球范围内有所不同. 这种模糊性会影响研究和患者获得护理的机会.

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