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Updated: Jul 15, 2025

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
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在CLCN4基因中的新变异与综合征性X链接智力障碍相关

Sinan Li1, Wenxin Zhang1, Piao Liang1

  • 1Department of Rehabilitation, Children's Hospital of Nanjing Medical University, Nanjing, China.

Frontiers in neurology
|October 4, 2023
PubMed
概括

这项研究在智力残疾的中国儿童中发现了新的CLCN4基因变异,扩大了已知的相关神经发育障碍的范围. 然而,这些变异在体外没有改变ClC-4蛋白表达或局部化.

关键词:
这就是CLCN4基因.这就是MRXSRC.智力障碍 智力障碍是一种智力障碍.错误的意义的变体拼接部位变异的拼接部位变异

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