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

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

Abstract Background Treacher Collins syndrome (TCS, MIM #154500), a severe congenital disorder, predominantly involves dysplasia of craniofacial bones and is characterized by features such as downslanting palpebral fissures, lower eyelid colobomas, microtia, and other craniofacial anomalies. Despite...

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Main Authors: Zhuoyuan Jiang, Ke Mao, Bingqing Wang, Hao Zhu, Jiqiang Liu, Ruirui Lang, Baichuan Xiao, Hailin Shan, Qi Chen, Ying Li, Shouqin Zhao, Qingguo Zhang, Huisheng Liu, Yong-Biao Zhang
Format: Article
Language:English
Published: BMC 2025-02-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Treacher Collins syndrome
TCOF1
Frameshift
Pathogenic
Intrinsically disordered protein
Online Access:https://doi.org/10.1186/s13023-024-03508-z
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