相关实验视频

Updated: Jul 9, 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

与PPP2R5D相关的神经发育障碍和多重血瘤:一种新的表型特征?

Francesco Comisi1, Consolata Soddu2, Francesco Lai2,3

  • 1Pediatrics Department, Microcitemico Hospital "A. Cao", University of Cagliari, 09124 Cagliari, Italy.

Pediatric reports
|December 27, 2024
PubMed
概括

与PPP2R5D基因相关的Houge-Janssens综合征1现在与血管瘤有关. 这一发现表明PPP2R5D功能障碍与改变的血管生成之间存在新的联系.

关键词:
乔丹综合征 (Jordan's syndrome) 是一种疾病,在PI3K/AKT信号通路中.这就是PPP2R5D.这种瘤叫做haemangiomas.

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