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Updated: Jul 3, 2025

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扩大与PPP1R21相关的神经发育障碍的表型

Mohammed Almannai1,2, Dana Marafi3,4, Maha S Zaki5,6

  • 1Genetics and Precision Medicine department (GPM), King Abdullah Specialized Children's Hospital (KASCH), King Abdulaziz Medical City, Ministry of National Guard Health Affairs (MNG-HA), Riyadh, Saudi Arabia.

Clinical genetics
|February 15, 2024
PubMed
概括

PPP1R21基因中的致病变体与罕见的神经发育障碍有关. 这项研究扩大了对这种疾病的理解,提供了新的患者数据和遗传发现.

关键词:
PPP1R2121 的意思是自体逆行性 (AR) 特性血缘关系是一种血缘关系.神经发育障碍 (NDD) 是一种神经发育障碍.

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