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Updated: Jul 15, 2026

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智利患者基因组分析怀疑有雷特综合征:保持广泛的差异诊断

Florencia Brito1, Catalina Lagos1, Jessica Cubillos2

  • 1Rare Diseases Program, Center for Genetics and Genomics, Institute of Sciences and Innovation in Medicine, Facultad de Medicina, Clínica Alemana Universidad del Desarrollo, Santiago, Chile.

Frontiers in genetics
|April 3, 2024
PubMed
概括

基因组测试证实了超过三分之一的智利患者患有雷特综合征 (RTT),而其他人则接受了其他神经发育诊断. 本试点研究表明,在资源有限的环境中,RTT的可行诊断方法.

关键词:
在CpG甲基结合蛋白中.这就是MeCP2的意义.雷特综合征是什么意思 雷特综合征是什么意思基因面板 基因面板 基因面板基因组测试是一种基因组测试.神经发育障碍 神经发育障碍

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