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Updated: Sep 9, 2025

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
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神経発達障害,尿道症,脊椎病の患者でREREの de novo変種が確認されました

Tian'e Cai1, Cuiyun Li1, Liting Chen1

  • 1Department of Medical Genetics and Antenatal Diagnostic Center, Hainan Branch, Shanghai Children's Medical Center, School of Medicine, Shanghai Jiao Tong University, Sanya, China.

Scientific reports
|September 1, 2025
PubMed
まとめ

研究者らは神経発達障害と尿尿症の患者で新しいRERE遺伝子変異を特定しました. この発見は,REREに関連する疾患の既知の臨床スペクトルを拡張します.

キーワード:
尿道症 と 脊椎病神経発達障害REREに関連する疾患変種

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