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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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Principais autores: Lijuan Zhang, Fei Wang, Yanfang Zhu, Hongxiao Zhang, Yahong Liu
Format: Artigo
Sprog:Inglês
Udgivet: Frontiers Media S.A. 2025-09-01
Serier:Frontiers in Pediatrics
Fag:
Treacher Collins syndrome
TCOF1 gene
variant
treacle protein
case report
Online adgang:https://www.frontiersin.org/articles/10.3389/fped.2025.1615309/full
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