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Updated: Feb 20, 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

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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CDH23に関連したアッシャー症候群:遺伝子型-現象型相関

Thales A C de Guimaraes1,2,3,4,5, Marcos Espinosa3, Juan Carlos Romo-Aguas1,2

  • 1UCL Institute of Ophthalmology, University College London, London, UK.

Ophthalmic genetics
|February 19, 2026
PubMed
まとめ

アッシャー症候群1型D (USH1D) のCDH23変異の調査は,機能喪失のない変異を持つより軽度の現象型への傾向を示しています. しかし,ゲノタイプグループ間で重要な網膜のパラメータにおいて統計的に有意な差は認められなかった.

キーワード:
CDH23CDH23は,CDH23で表記されている.アッシャー症候群 (Usher syndrome) とは,アッシャー症候群 (Usher syndrome) とは,アッシャー症候群 (Usher syndrome) とは,アッシャー症候群 (Usher syndrome) とは,アッシャー症候群 (Usher syndrome) とは,アッシャー症候群 (Usher syndrome) とはゲノタイプ・フェノタイプレチニティス・ピグメントーザ

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