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Year | Number of Results |
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1993 | 1 |
2000 | 1 |
2010 | 1 |
2011 | 1 |
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PubMed (cited) for id: 248390
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Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome.
Nat Genet. 2011 Jan;43(1):20-2. doi: 10.1038/ng.724. Epub 2010 Dec 5.
Nat Genet. 2011.
PMID: 21131976
High mutation detection rate in TCOF1 among Treacher Collins syndrome patients reveals clustering of mutations and 16 novel pathogenic changes.
Splendore A, Silva EO, Alonso LG, Richieri-Costa A, Alonso N, Rosa A, Carakushanky G, Cavalcanti DP, Brunoni D, Passos-Bueno MR.
Splendore A, et al.
Hum Mutat. 2000 Oct;16(4):315-22. doi: 10.1002/1098-1004(200010)16:4<315::AID-HUMU4>3.0.CO;2-H.
Hum Mutat. 2000.
PMID: 11013442
Review.
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Mandibulofacial dysostosis: report on two Brazilian families suggesting autosomal recessive inheritance.
Richieri-Costa A, Bortolozo MA, Lauris JR, Lauris RC, Guion-Almeida ML, Marques D, Moreti D.
Richieri-Costa A, et al.
Am J Med Genet. 1993 Jul 1;46(6):659-64. doi: 10.1002/ajmg.1320460611.
Am J Med Genet. 1993.
PMID: 8362908
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