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Updated: Jul 4, 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PHACTR1相关的神经疾病的基因型和表型相关性

Zhao Xu1,2, Lynette Sadleir3, Himanshu Goel4

  • 1Department of Pediatrics, Peking University People's Hospital, Beijing, China.

Journal of medical genetics
|January 25, 2024
PubMed
概括

在PHACTR1的遗传变异与婴儿发作综合征 (IESS) 和发育性脑病变有关. 这些PHACTR1变种破坏蛋白质相互作用,导致神经系统疾病.

关键词:
是一种病.遗传学,医学医学基因型 基因型 基因型神经学 神经学儿科 儿科 儿科

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