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患有KBG综合征的成年人的自然史:医生报告的经验

Allan Bayat1, Hannah Grimes2, Elke de Boer3

  • 1Department of Regional Health Research, University of Southern Denmark, Odense, Denmark; Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Center, Dianalund, Denmark; Department of Drug Design and Pharmacology, University of Copenhagen, Copenhagen, Denmark.

Genetics in medicine : official journal of the American College of Medical Genetics
|May 31, 2024
PubMed
概括

这项研究详细介绍了KBG综合征 (ANKRD11哈普洛缺陷) 的成人临床特征,揭示了常见的神经发育,行为和精神问题. 研究结果强调了这种罕见疾病的成年人的各种能力和长期结果.

关键词:
在 ANKRD1111 里面.成年人 成年人 成年人 成年人 成年人 成年人在 KBGS 里, KBGS 是一个 KBGS 系统.神经发育 神经发育发作 发作 发作

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