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Updated: Sep 9, 2025

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

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

Published on: December 1, 2017

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PRKCIの稀な変異は,ヴァン・デル・ウード症候群および外皮病の他の特徴を引き起こす

Kelsey Robinson1, Sunil K Singh2, Rachel B Walkup3

  • 1Department of Human Genetics, Emory University, Atlanta, GA 30322, USA.

American journal of human genetics
|September 3, 2025
PubMed
まとめ

ヴァン・デル・ウード症候群 (VWS) は,PRKCIにおける新しい遺伝子変異と関連しています. この発見により 皮膚の発達に関する理解が広がり 耳や顔の裂け目を 診断する新たな道が開かれました

キーワード:
唇と口腔の裂け目舌の裂け目キナーゼ神経発達障害外皮

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