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Deciphering TCOF1 mutations in Chinese Treacher Collins syndrome patients: insights into pathogenesis and transcriptional disruption.

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Bibliographic Details
Title: Deciphering TCOF1 mutations in Chinese Treacher Collins syndrome patients: insights into pathogenesis and transcriptional disruption.
Authors: Jiang, Zhuoyuan1 (AUTHOR), Mao, Ke1 (AUTHOR), Wang, Bingqing2 (AUTHOR), Zhu, Hao1 (AUTHOR), Liu, Jiqiang1 (AUTHOR), Lang, Ruirui1 (AUTHOR), Xiao, Baichuan1 (AUTHOR), Shan, Hailin1 (AUTHOR), Chen, Qi2 (AUTHOR), Li, Ying3 (AUTHOR), Zhao, Shouqin3 (AUTHOR), Zhang, Qingguo2 (AUTHOR), Liu, Huisheng4,5 (AUTHOR) liu_huisheng@grmh-gdl.cn, Zhang, Yong-Biao1,6 (AUTHOR) zhangyongbiao@buaa.edu.cn
Source: Orphanet Journal of Rare Diseases. 2/7/2025, Vol. 20 Issue 1, p1-12. 12p.
Database: Academic Search Ultimate
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Description
ISSN:17501172
DOI:10.1186/s13023-024-03508-z