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Updated: Sep 10, 2025

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与韦弗综合征相关的EZH2变异的主要负面影响

Orla Deevy1,2, Jingjing Li1, Craig Monger1

  • 1Smurfit Institute of Genetics, Trinity College Dublin, Dublin 4, Ireland.

Genes & development
|August 22, 2025
PubMed
概括

韦弗综合征在EZH2中的突变破坏了聚合体抑制复合体2 (PRC2) 的功能,影响了基因组甲基化和基因表达. 这种主导阴性机制影响着染色体和生长控制,

关键词:
其他:中华人民共和国聚合器韦弗综合征发育过度生长主导的负面基因组分析增长的限制同源性罕见的疾病

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