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Updated: Jun 29, 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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与CLCN4相关的发育性和性脑病变中的基因型-表型相关性

Ahmed N Sahly1,2, Juan Sierra-Marquez3,4, Stefanie Bungert-Plümke3

  • 1Division of Neurology, Department of Pediatrics, Montreal Children's Hospital, McGill University Health Centre, Montreal, QC, Canada.

Human genetics
|April 5, 2024
PubMed
概括

与CLCN4相关的疾病是一种罕见的X相关的神经发育状况,涉及改变的ClC-4运输功能. 在CLCN4的变体导致和发育障碍,与不同的临床表现和大脑形.

关键词:
在CLCN4中使用.2Cl−/H+ 交换器发育性和性脑病变,发育性和性脑病变.耐药性的药物耐药性.智力障碍 智力障碍是一种智力障碍.复发状态性 (Epilepticus) 是一个复发状态.

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