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

@article{Lau2016PathogenesisOP,
  title={Pathogenesis of POLR1C-dependent Type 3 Treacher Collins Syndrome revealed by a zebrafish model.},
  author={Marco Chi Chung Lau and Ernest Man Lok Kwong and Keng Po Lai and Jing Li and Jeff Cheuk Hin Ho and Ting Fung Chan and Chris Kong-Chu Wong and Y Jiang and W. F. Tse},
  journal={Biochimica et biophysica acta},
  year={2016},
  volume={1862 6},
  pages={
          1147-58
        }
}
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 subunits of RNA polymerases I and III, that affect ribosome biogenesis. In this study… CONTINUE READING
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