异合体的TBX2移变体会导致一种新型综合征性听力损失,具有不完全透的阴影

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In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
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In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

Published on: August 20, 2019

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Wan Hua1,2, Yanfei Wang3, Xiang Li4,5

  • 1Department of Otolaryngology Head and Neck Surgery, West China Hospital of Sichuan University, Chengdu, Sichuan, China.

Journal of medical genetics
|September 17, 2025
PubMed
概括

TBX2基因中的遗传变异会导致人类遗传性听力损失 (HL) 和耳. 这一发现确定了渐进性神经感官HL的新原因,并扩大了对T盒相关疾病的理解.

关键词:
遗传研究 遗传研究遗传学 是一个遗传学.人类遗传学 人类遗传学

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