与INTS11相关的神经发育障碍:一个病例报告和文献综述
Lihua Jiang1, Yilong Wang1, Weiqin Zhang1
1Department of Neurology, The Children's Hospital of Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hangzhou, 310052, China.
Journal of human genetics
|July 19, 2024
概括
在INTS11基因的突变导致神经发育障碍. 这项研究详细介绍了一例与复合异合体INTS11变体相关的严重病例,强调了该基因在神经功能中的作用.
科学领域:
- 遗传学和分子生物学
- 神经科学是一个神经科学.
背景情况:
- 集成体复合体,INTS11作为一个关键的催化子单元,对于调节RNA聚合酶II转录终结和基因表达至关重要.
- INTS11中的突变以前与人类神经发育障碍有关,呈现出全球发育延迟,低血压和大脑缩.
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