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Updated: Sep 10, 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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关联神经发育障碍:来自不同家庭的三名新人

Jessica Archer1, Shuxiang Goh2, Christina Miteff3

  • 1Hunter Genetics, Waratah, NSW 2298, Australia.

Genes
|August 28, 2025
PubMed
概括

在CRELD1基因的双基因变异与明显的神经发育障碍有关. 这项研究扩大了已知的CRELD1相关神经发育障碍的临床和遗传谱.

关键词:
其他国家性脑病全球发育迟缓低血压小头症

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