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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| Autori principali: | , , , , |
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| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
Frontiers Media S.A.
2025-09-01
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| Serie: | Frontiers in Pediatrics |
| Soggetti: | |
| Accesso online: | https://www.frontiersin.org/articles/10.3389/fped.2025.1615309/full |
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