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Updated: May 1, 2026

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia
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MEDNIK症候群を引き起こす新しいAP1S1変異の臨床的および遺伝的機能的検証

Lifen Duan1,2, Ru Shen3, Guoyan Yin4

  • 1Epilepsy Center, The Affiliated Children's Hospital of Kunming Medical University, Kunming Medical University, Kunming, China.

International journal of genomics
|September 3, 2025
PubMed
まとめ

MEDNIK症候群は珍しい銅代謝疾患で 発育遅延や黄色い髪などの様々な症状が表れます この状態の既知の遺伝的原因を拡大する新しい同胞性AP1S1変異が特定されました.

キーワード:
AP1S1メドニック症候群銅の代謝変異

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