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Updated: Sep 9, 2025

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

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与WWOX相关的发育和脑病变:扩大临床谱和解读基因型-表型

Kelley Gao1, Lisa G Riley1,2,3, Jacques Raubenheimer4

  • 1Molecular Neurobiology Research Laboratory, Kids Research and Kids Neuroscience Centre, The Children's Hospital at Westmead, School of Medical Sciences, Faculty of Medicine and Health, The University of Sydney, Australia.

Neurology
|August 28, 2025
PubMed
概括

双性无WWOX变体的个体面临着发作,呼吸问题和高血压的更高风险. 考虑基因型辅助治疗WWOX发育性和性脑病 (WWOX-DEE).

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