与CEP85L相关的脑的概述和扩展
Isabell Schumann1, Rami Abou Jamra2, Robin-Tobias Jauss2
1Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany; Centre for Medical Genetics, Department of Medical Genetics, University of Münster, Münster, Germany.
CEP85L中的基因变异会导致神经发育障碍. 这项研究澄清了基因型-表型相关性,有助于对这种疾病进行遗传诊断和咨询.
科学领域:
- 神经科学
- 遗传学
- 发育生物学
背景情况:
- 听脑病 (LIS) 是一种神经发育障碍 (NDD),由神经元迁移缺陷引起,其特征是脑表面光滑,皮层厚度异常.
- CEP85L基因变异与后部主导的LIS有关,但综合的基因型-表型相关性和诊断标准尚不清楚.
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