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Article

Restoration of polr1c in Early Embryogenesis Rescues the Type 3 Treacher Collins Syndrome Facial Malformation Phenotype in Zebrafish.

The American journal of pathology - 1 Feb 2018

Kwong Ernest Man Lok, Ho Jeff Cheuk Hin, Lau Marco Chi Chung, You May-Su, Jiang Yun-Jin, Tse William Ka Fai

Abstract excerpt

Treacher Collins syndrome (TCS) is a rare congenital birth disorder (1 in 50,000 live births) characterized by severe craniofacial defects. Recently, the authors' group unfolded the pathogenesis of polr1c Type 3 TCS by using the zebrafish model. Facial development depends on the neural crest cells, in which polr1c plays a role in regulating their expression. In this study, the authors aimed to identify the...

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Identifiers

PMID: 29128566
DOI: 10.1016/j.ajpath.2017.10.004

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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