Thomas Eggermann1, David Monk2, Guiomar Perez de Nanclares3

  • 1Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University, Aachen, Germany. teggermann@ukaachen.de.

概括

印记障碍 (ImpDis) 是一种罕见的先天性疾病,影响基因组印记,导致诊断和治疗方面的挑战. 研究正在推动对它们的机制的理解,并为像普拉德-威利综合征和安吉尔曼综合征这样的疾病开发个性化疗法.

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