PubMed (OMIM) for id: 340868

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Year	Number of Results
1985	1
1993	1
2000	1
2023	0

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Page 1

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.

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

Mandibulofacial dysostosis in Hutterite sibs: a possible recessive trait.

Lowry RB, Morgan K, Holmes TM, Metcalf PJ, Stauffer GF. Lowry RB, et al. Am J Med Genet. 1985 Nov;22(3):501-12. doi: 10.1002/ajmg.1320220308. Am J Med Genet. 1985. PMID: 4061487

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