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Updated: May 22, 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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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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范德伍德综合征和胎儿带序列:一个通向共同遗传病因的线索? 一个案例报告报告

Ana Luiza Bossolani-Martins1, Joanna Goes Castro Meira2, Gerson Shigeru Kobayashi3

  • 1Universidade Federal de Mato Grosso do Sul, Paranaíba, MS, Brazil.

Genetics and molecular biology
|March 14, 2025
PubMed
概括

罕见的IRF6基因变异导致范德伍德综合征1 (VWS1),一种口唇裂 (CLP) 的形式. 这项研究在患有VWS1,自闭症和四肢异常的患者中发现了一种新的IRF6变异,这表明CLP和羊带序列 (ABS) 之间存在遗传联系.

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