Identification of novel TCOF1 mutations in Treacher Collins syndrome and their functional characterization

被引：0
|
作者：
Ying Chen [1 ]
Run Yang [1 ]
Xin Chen [1 ]
Tianyu Zhang [1 ]
Chenlong Li [2 ]
Jing Ma [1 ]
机构：
[1] ENT Institute,Department of Facial Plastic and Reconstructive Surgery
[2] Eye and ENT Hospital of Fudan University,NHC Key Laboratory of Hearing Medicine
[3] Fudan University,Institute of Medical Genetics and Genomics
[4] Fudan University,Surgery Laboratory, Institute of Medical Sciences
[5] General Hospital of Ningxia Medical University,undefined
来源：
Orphanet Journal of Rare Diseases | / 20卷 / 1期
关键词：
Treacher Collins syndrome; Mutation; Pathogenesis;
D O I：
10.1186/s13023-025-03667-7
中图分类号：
学科分类号：
摘要：
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