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Updated: Sep 15, 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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对与MAST4相关的神经发育障碍的遗传和临床见解

Xiaohong Zheng1, Foyang Fan1, Bin Lei1

  • 1College of Clinical Medicine for Obstetrics & Gynecology and Pediatrics, Fujian Medical University, Fujian Children's Hospital (Fujian Branch of Shanghai Children's Medical Center), Fuzhou City, China.

Frontiers in pediatrics
|July 14, 2025
PubMed
概括

MAST4基因的新变异与神经发育障碍有关. 在患有全球发育迟缓的儿童身上发现了一种新的MAST4变异,扩大了已知的遗传和表型谱.

关键词:
在MAST4中,我们可以使用MAST4.这种新变种是de novo变种.发育延迟的发展延迟.骨髓化 发育不良 发育不良整体外因子测序的测序

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