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Updated: Jun 26, 2025

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
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FBXO11变种与中国受影响个体的智力障碍和可变的临床表现有关

Xin Pan1, Li Liu1, Xu Zhang1

  • 1Department of Gynecology and Obstetrics, The Second Affiliated Hospital of Chongqing Medical University, Chongqing, 400000, China.

Journal of human genetics
|May 13, 2024
PubMed
概括

这项研究确定了中国个体的新型F-box蛋白11 (FBXO11) 基因变异与智力发育障碍与异形面部和行为异常 (IDDFBA),扩大了这种神经发育障碍的已知的遗传原因.

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