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Updated: Jul 6, 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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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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[SYNGAP1变种儿童早期神经发育特征及其基因型的相关性]

Haoran Liu1, Shenghai Yang, Jiayi Li

  • 1Genetics Research Unit, Capital Institute of Pediatrics, Beijing 100020, China. xiaolichen@pumc.edu.cn; xiehua_2005@126.com.

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
|January 3, 2024
PubMed
概括

患有SYNGAP1变异的幼儿早期神经发育特征包括全球发育迟缓和. 这种延迟的严重程度可能与SYNGAP1变种的特定类型和位置相关.

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