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Updated: May 8, 2026

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
08:22

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations

Published on: December 1, 2017

作为发育性和性脑病变以及一般性的致病基因,CSMD1

Wenjun Zhang1,2, Sheng Luo1, Mi Jiang1

  • 1Department of Neurology, Institute of Neuroscience, Key Laboratory of Neurogenetics and Channelopathies of Guangdong Province and the Ministry of Education of China, The Second Affiliated Hospital, Guangzhou Medical University, Guangzhou, Guangdong 510000, China.

Genes & diseases
|May 7, 2025
PubMed
概括

CSMD1基因中的遗传变异与有关,包括严重的发育性和性脑病变 (DEE) 和异常普遍性 (IGE). 这一发现为这些神经系统疾病的遗传原因提供了新的见解.

关键词:
在CSMD1中,发育性和性脑病变,发育性和性脑病变.基因型-表型相关性相关性异形性通用性 - 异形性通用性小等位基因频率-现象型严重程度相关性相关性

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