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Updated: May 7, 2026

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia
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Published on: June 15, 2011

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肢体異常における分子景観:診断成果と新しい候補遺伝子

Akram Mokhtari1, Jade Charbonneau1, Valancy Miranda1

  • 1Division of Medical Genetics, Department of Pediatrics, CHU Sainte-Justine, Montreal, Quebec, Canada.

Clinical genetics
|August 22, 2025
PubMed
まとめ

遺伝検査は 患者の36%で 生まれつきの肢体異常の原因を 診断しました エクソーム配列解析により,新しい変異と候補遺伝子が特定され,稀な四肢異常のエチオロギー診断が改善されました.

キーワード:
コホート研究生まれながらのエクソーム手足の変形分子診断検査

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