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Updated: May 11, 2025

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在Treacher Collins综合征中识别新的TCOF1突变及其功能性特征

Ying Chen1, Run Yang1, Xin Chen1

  • 1Department of Facial Plastic and Reconstructive Surgery, ENT Institute, Eye and ENT Hospital of Fudan University, Shanghai, 200031, People's Republic of China.

Orphanet journal of rare diseases
|April 16, 2025
PubMed
概括

这项研究确定了TCOF1基因中的两个新的Treacher Collins综合征 (TCS) 突变,澄清了它们的致病作用. 这些发现有助于对TCS患者进行遗传咨询和产前诊断.

关键词:
在TCOF1中,突变突变是一种突变.病变的发生和发病.特雷彻·柯林斯综合征是什么意思

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