Treacher Collins syndrome.

@article{Dixon2007TreacherCS,
  title={Treacher Collins syndrome.},
  author={Jill Dixon and Paul A Trainor and Michael James Dixon},
  journal={Orthodontics & craniofacial research},
  year={2007},
  volume={10 2},
  pages={88-95}
}
Treacher Collins syndrome (TCS) is an autosomal dominant disorder of craniofacial development which results from loss-of-function mutations in the gene TCOF1. TCOF1 encodes the nucleolar phosphoprotein, Treacle, which plays a key role in pre-ribosomal processing and ribosomal biogenesis. In mice, haploinsufficiency of Tcof1 results in a depletion of neural crest cell precursors through high levels of cell death in the neuroepithelium, which results in a reduced number of neural crest cells… CONTINUE READING