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Article

Pathogenesis of POLR1C-dependent Type 3 Treacher Collins Syndrome revealed by a zebrafish model.

Biochimica et biophysica acta - 1 Jun 2016

Lau Marco Chi Chung, Kwong Ernest Man Lok, Lai Keng Po, Li Jing-Woei, Ho Jeff Cheuk Hin, Chan Ting-Fung, Wong Chris Kong Chu, 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, including the downward slanting palpebral fissures, hypoplasia of the facial bones, and cleft palate (CP). Over 90% of patients with TCS have a mutation in the TCOF1 gene. However, some patients exhibit mutations in two new causative genes, POLR1C and POLR1D, which encode...

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Identifiers

PMID: 26972049
DOI: 10.1016/j.bbadis.2016.03.005

Genes

TCOF1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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