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Updated: Jun 24, 2025

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
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通过多数据集成解读未被诊断的瓦登堡综合征的潜在致病因素

Fengying Sun1, Minmin Xiao1, Dong Ji2

  • 1Department of Clinical Laboratory, the Affiliated Wuhu Hospital of East China Normal University (The Second People's Hospital of Wuhu City), Wuhu, 241000, China.

Orphanet journal of rare diseases
|June 6, 2024
PubMed
概括

这项研究使用多数据集成识别了未解释的瓦登堡综合征 (WS) 的潜在新基因和变异. 研究结果将特定的基因变异与WS症状联系起来,有助于未来对这种罕见疾病进行诊断和遗传咨询.

关键词:
基因型 基因型 基因型遗传性耳聋是一种遗传性耳聋.新的潜在的致病变异.新的潜在的致病基因.现象型 现象型 是一种表现型.瓦登堡综合征是什么意思

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