Case Report: A novel heterozygous variant of the TCOF1 gene in Treacher Collins syndrome

Treacher Collins syndrome (TCS) is a craniofacial malformation caused by the abnormal development of the first and second pharyngeal arches during embryogenesis. While pathogenic variants in POLR1B, POLR1C, and POLR1D are implicated, the TCOF1 gene represents the primary causative locus. This case r...

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Bibliographic Details

Published in:	Frontiers in Pediatrics
Main Authors:	Lijuan Zhang, Fei Wang, Yanfang Zhu, Hongxiao Zhang, Yahong Liu
Format:	Article
Language:	English
Published:	Frontiers Media S.A. 2025-09-01
Subjects:	Treacher Collins syndrome TCOF1 gene variant treacle protein case report
Online Access:	https://www.frontiersin.org/articles/10.3389/fped.2025.1615309/full