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Updated: Jan 18, 2026

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
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神经元粘附分子阿斯托拉克1基因ASTN1中的双基变异会导致各种神经发育障碍

Jesse M Levine1, Daniel G Calame1, Riccardo Sangermano2

  • 1Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA; Texas Children's Hospital, Houston, TX, USA.

American journal of human genetics
|January 16, 2026
PubMed
概括

通过破坏神经元迁移,ASTN1中的突变会导致神经发育障碍 (NDD). 这项研究详细介绍了18例新病例,扩大了ASTN1相关NDD的已知的临床和脑形谱.

关键词:
在ASTN1中,ASTN1就是ASTN1.在ASTN2中,ASTN2是ASTN2.自闭症自闭症是什么小脑小脑是什么意思分布式的 AOH 的分布式.是一种.智力障碍 智力障碍是一种智力障碍.多部位病原性变异多种病原性变异神经发育障碍 神经发育障碍神经元迁移的神经元迁移

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