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Updated: Jul 2, 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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在改善的PUF60相关疾病中,新的遗传和表型扩展

Emily Baum1,2,3, Wenming Huang2,3, Catherine Vincent-Delorme4

  • 1Department of Pediatrics, Faculty of Medicine and University Hospital Cologne, University of Cologne, 50937 Cologne, Germany.

International journal of molecular sciences
|February 24, 2024
PubMed
概括

五名新患者具有60kDa (PUF60) 结合拼接因子 (PUF60) 基因变异,表现出神经发育和免疫系统问题. 研究人员建议将这些疾病重新归类为与PUF60相关的多系统参与的神经发育障碍.

关键词:
在PUF60中,PUF60为60度.维雷伊氏综合征 (Verheij综合征) 是一种免疫系统疾病 免疫系统疾病神经发育障碍 神经发育障碍

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