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Updated: Aug 7, 2026

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
08:22

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Published on: December 1, 2017

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在CNNM2中,有两种新型变体破坏了的流量,导致神经发育障碍

Huijuan Li1, Jing Liu2, Yingdi Liu1,3

  • 1MOE Key Lab of Rare Pediatric Diseases, Center for Medical Genetics, Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, China.

Frontiers in genetics
|July 4, 2025
PubMed
概括

新型CNNM2基因变异通过破坏平衡,导致高磁血症,发作和智力发育1 (HOMGSMR1) 的受损. 这些发现有助于对这种罕见的神经发育障碍进行基因测试.

关键词:
美国有线电视新闻 (CNN) CNNM2磁性低血症 (hypomagnesemia) 是一种疾病.智力障碍 智力障碍是一种智力障碍.发作 发作 这些整体外基因组测序的测序

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