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Updated: Jun 16, 2025

Rapid Detection of Neurodevelopmental Phenotypes in Human Neural Precursor Cells NPCs
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Rapid Detection of Neurodevelopmental Phenotypes in Human Neural Precursor Cells NPCs

Published on: March 2, 2018

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一份关于患有SEC31A相关神经发育障碍的儿童的报告

Ruqaiah AlTassan1,2, Hanan AlQudairy3, Biam Saydo2,3

  • 1Department of Medical Genomics, Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre, Riyadh 11211, Saudi Arabia.

International journal of molecular sciences
|June 13, 2025
PubMed
概括

SEC31A基因变异导致哈尔佩林-伯克综合征,这是一种严重的神经发育障碍,其特征是严重的发育延迟和发作. 这项研究确定了一名新患者,并证实了SEC31A突变与这种罕见疾病之间的联系.

关键词:
COPIIII COPIIII 这是一个很大的问题.美国证券交易委员会 (SEC31A)身体质体的低发育.神经发育障碍是一种神经发育障碍.发作障碍是一种发作障碍.

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