関連する実験動画

Updated: Sep 10, 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

Published on: December 1, 2017

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CRELD1 関連神経発達障害 関連性のない家族から 3人の新生児

Jessica Archer1, Shuxiang Goh2, Christina Miteff3

  • 1Hunter Genetics, Waratah, NSW 2298, Australia.

Genes
|August 28, 2025
PubMed
まとめ

CRELD1遺伝子のバイアレル変異は,特定の神経発達障害と関連しています. この研究は,CRELD1に関連した神経発達障害の既知の臨床的および遺伝的スペクトルを拡張します.

キーワード:
CRELD1 についてエピレプシス脳症世界的な発達遅延低血圧症マイクロケファリー

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