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Updated: Jul 16, 2026

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人間のdel22q11.2症候群におけるTBX1の役割

Hisato Yagi1, Yoshiyuki Furutani, Hiromichi Hamada

  • 1Division of Genomic Medicine, Institute of Advanced Biomedical Engineering and Science, Graduate School of Medicine, Tokyo Women's Medical University, Tokyo, Japan.

Lancet (London, England)
|October 31, 2003
PubMed
まとめ

染色体22q11.2の切除は,一般的なマイクロ切除症候群を引き起こす. TBX1遺伝子変異は,完全な削除なしに,この症候群の重要な遺伝的原因として特定されています.

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