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生物谷
27 天
Nature:耶鲁大学借助类器官技术揭示平脑症背后mTOR通路的秘密并找到 ...
平脑症(lissencephaly,也称为无脑回畸形)是一种罕见的遗传性疾病,大脑无法发育出标志性的褶皱。这些疾病通常与癫痫发作和智力残疾有关 ...
澎湃新闻
29 天
华人学者一作Nature论文,利用类器官揭示罕见遗传脑病的病因和潜在 ...
改变基因表达或功能的罕见基因突变会破坏大脑皮层的结构,从而导致一系列神经系统疾病。 无脑回畸形(lissencephaly,也叫做平滑脑),就是这样一组罕见的遗传异质性先天性脑畸形,患者大脑表面平滑,且大脑皮层更厚,完全性无脑回畸形患者通常在2岁前 ...
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