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Updated: Jun 20, 2026

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儿科患者ADNP变异的临床影响和体外表征

Chuanhui Ge1, Yuxin Tian2, Chunchun Hu2

  • 1Institutes of Brain Science, State Key Laboratory of Medical Neurobiology and MOE Frontiers Center for Brain Science, Fudan University, Shanghai, 200032, China.

Molecular autism
|January 23, 2024
PubMed
概括

由ADNP基因变异引起的Helsmoortel-Van der Aa综合征 (HVDAS) 在中国儿科患者中呈现出各种发育和智力障碍. 实验室研究表明,ADNP变种破坏了正常的蛋白质定位和核体形成.

关键词:
在ADNP综合征中出现ADNP综合征.在ADNP变种中,ADNP变种自闭症谱系障碍 自闭症谱系障碍全球发展的延迟.这就是HVDASAS.赫尔斯穆尔特尔 范德阿综合征

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