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Updated: Jan 7, 2026

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
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与PPP2R1A相关的神经发育障碍的临床和分子谱:系统性审查

Jaewoong Lee1, Ari Ahn1, Jaeeun Yoo1

  • 1Department of Laboratory Medicine, Incheon St. Mary's Hospital, College of Medicine, The Catholic University of Korea, Incheon 21431, Republic of Korea.

Genes
|December 30, 2025
PubMed
概括

在PPP2R1A的致病变体导致霍格-詹森综合征2,神经发育障碍. 本综述定义了临床谱,确定了复发变异,并将特定突变与疾病严重程度联系起来,以改善遗传咨询.

关键词:
霍格 - 詹森综合征 2 霍格 - 詹森综合征这就是PPP2R1A.体质体的产生发生.是一种.基因型-表型相关性相关性智力障碍 智力障碍是一种智力障碍.神经发育障碍是一种神经发育障碍.

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