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Updated: Jan 18, 2026

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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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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德诺沃HNRNPU致病变体与发育性脑病变相关,具有遗传KANSL1功能丧失变体,通过RNA分析解决

Daria Akimova1, Daria Guseva1, Maria Nefedova2

  • 1Research Centre for Medical Genetics, Moscow, Russia.

Molecular genetics & genomic medicine
|September 9, 2025
PubMed
概括

发展性和性脑病变 (DEE) 的准确诊断需要将全基因组测序 (WGS) 与进一步分析相结合. 这种方法澄清了KANSL1功能丧失的变体.

关键词:
在HNRNPU中使用.在KANSL1的KANSL1上.对RNA分析进行RNA分析.发育性和性脑病变 (DEE)

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