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Updated: May 31, 2025

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
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Published on: August 20, 2019

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IRF2BPL综合征患者的临床和遗传谱

Kazuhiro Iwama1,2, Mitsuhiro Kato3, Yuri Uchiyama1,4

  • 1Department of Human Genetics, Graduate School of Medicine, Yokohama City University, Yokohama, Japan.

Journal of human genetics
|January 22, 2025
PubMed
概括

在IRF2BPL基因的致病变体与神经发育障碍有关. 这项研究在发育迟缓和患者中发现了新的IRF2BPL变异,突出了与这些疾病相关的特定变异类型.

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