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Updated: May 6, 2026

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在以前难以捉摸的雷特综合征病例中,通过IGV解释解开MECP2结构变异

Tomer Poleg1, Noam Hadar1, Gali Heimer2,3

  • 1Faculty of Health Sciences, Ben-Gurion University of the Negev, Be'er Sheva, Israel.

NPJ genomic medicine
|March 14, 2025
PubMed
概括

在MECP2基因中的结构变异 (SV) 可能解释以前未被诊断的雷特综合征 (RTT) 病例. 通过基因测试检测这些难以捉摸的SVs可以提高RTT的诊断率.

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