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Updated: Jun 25, 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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临床基因组学扩大了错误的细胞分裂,初级小头症和智力障碍之间的联系

Saima1, Amjad Khan2,3,4, Sajid Ali1

  • 1Department of Biotechnology, Abdul Wali Khan University, Mardan, 23200, Khyber Pakhtunkhwa, Pakistan.

Neurogenetics
|May 25, 2024
PubMed
概括

初级小头症是一种罕见的脑发育障碍,与细胞分裂和中心体功能至关重要的基因突变有关. 这项研究确定了五个基因的新型变异,加深了我们对神经发育障碍的理解.

关键词:
血缘亲属家庭中的血缘亲属家庭.主要的小头症是小头症.在WES,CENPJ,STIL,CDK5RAP2,RBBP8中使用.和CEP135的变体.

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