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Updated: Sep 14, 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POLR3相关疾病中进行全面的基因型-表型分析

Mackenzie A Michell-Robinson1, Stefanie Perrier1, Samuel Gauthier2

  • 1Department of Neurology and Neurosurgery, McGill University, Montréal, QC H4A 3J1, Canada; Child Health and Human Development Program, Research Institute of the McGill University Health Centre, Montréal, QC H4A 3J1, Canada.

HGG advances
|July 20, 2025
PubMed
概括

与RNA聚合酶III (RNA Pol III) 相关的疾病 (POLR3-RDs) 是一种罕见的遗传疾病. 这项研究确定了POLR3-RDs的基因型-表型相关性,有助于临床护理和研究.

关键词:
4H 白血病变异症 4H 白血病变异症这就是POLR3-HLD.这就是POLR3-RD.与POLR3相关的疾病.与POLR3相关的白血病变.在 RNA Pol III 中.的RNA聚合酶III.基因型-表型相关性相关性这里是海波登西亚.这是一种低性性性性性性.低叶黄化 (hypomyelination) 是一种低叶黄化.

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