案例报告:一个新奇的故事

Cong Zhou1,2, Hongmei Zhu1,2, Qinqin Xiang1,2

  • 1Department of Medical Genetics, Prenatal Diagnostic Center, West China Second University Hospital, Sichuan University, Chengdu, China.

PubMed
概括

智力发育障碍7或DYRK1A综合征与DYRK1A基因中的致病变异有关. 这项研究在一个中国女孩身上发现了一种新的删除,有助于分子诊断.

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