1 | POLR1C, TCSPC |
Pathogenesis of POLR1C-dependent Type 3 Treacher Collins Syndrome revealed by a zebrafish model. | |
Lau MC, Kwong EM, Lai KP, Li JW, Ho JC, Chan TF, Wong CK, Jiang YJ, Tse WK. | |
Biochim Biophys Acta 1862(6):1147-58. doi: 10.1016/j.bbadis.2016.03.005. Epub 2016 Mar 10. 2016 | |
2 | POLR1C, POLR1D, TCSPC, TCSPD |
The Roles of RNA Polymerase I and III Subunits Polr1c and Polr1d in Craniofacial Development and in Zebrafish Models of Treacher Collins Syndrome. | |
Noack Watt KE, Achilleos A, Neben CL, Merrill AE, Trainor PA. | |
PLoS Genet 12(7):e1006187. doi: 10.1371/journal.pgen.1006187. eCollection 2016 Jul. 2016 | |
3 | POLR1C, POLR1D, TCSPC, TCSPD |
Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome. | |
Dauwerse JG, Dixon J, Seland S, Ruivenkamp CA, van Haeringen A, Hoefsloot LH, Peters DJ, Boers AC, Daumer-Haas C, Maiwald R, Zweier C, Kerr B, Cobo AM, Toral JF, Hoogeboom AJ, Lohmann DR, Hehr U, Dixon MJ, Breuning MH, Wieczorek D. | |
Nat Genet 43(1):20-2. Epub 2010 Dec 5. 2011 | |