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Updated: Sep 20, 2025

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
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不同的TBL1XR1突变导致神经发育障碍的不同表型:两个病例报告

Linlin Wei1, Yonghui Yang2, Tiejia Jiang1

  • 1Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hangzhou, 310057, China.

BMC medical genomics
|May 28, 2025
PubMed
概括

在患有神经发育障碍的患者中发现了两种新型病原体变异的Transducin beta-like 1X-linked receptor 1 (TBL1XR1) 基因. 这扩大了TBL1XR1已知的突变谱,有助于理解它在神经疾病中的作用.

关键词:
这就是TBL1XR1的意思.案例报告案例报告.在MRD41中,MDR41是什么?皮尔庞特综合征是什么?三人组-WES 在线播放

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