| 1 | POLR1C, POLR1D, TCSPC, TCSPD
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| The Roles of RNA Polymerase I and III Subunits Polr1c and Polr1d in Craniofacial Development and in Zebrafish Models of Treacher Collins Syndrome.
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| Noack Watt KE, Achilleos A, Neben CL, Merrill AE, Trainor PA.
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| PLoS Genet 12(7):e1006187. doi: 10.1371/journal.pgen.1006187. eCollection 2016 Jul.
2016
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| 2 | POLR1D, TCOF1, TCS, TCSPD
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| Autosomal recessive POLR1D mutation with decrease of TCOF1 mRNA is responsible for Treacher Collins syndrome.
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| Schaefer E, Collet C, Genevieve D, Vincent M, Lohmann DR, Sanchez E, Bolender C, Eliot MM, Nürnberg G, Passos-Bueno MR, Wieczorek D, van Maldergem L, Doray B.
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| Genet Med 16(9):720-4. doi: 10.1038/gim.2014.12. Epub 2014 Mar 6.
2014
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| 3 | POLR1C, POLR1D, TCSPC, TCSPD
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| Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome.
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| 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.
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| Nat Genet 43(1):20-2. Epub 2010 Dec 5.
2011
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