9Dixon J,Edwards SJ,Anderson I,et al.Identification of the complete coding sequence and genomic organization of the Treacher Collins syndrome gene.Genome Res,1997,7(3):223-234. 被引量:1
5Marszalek B, Wisniewski SA, Wojcicki P, et al. Novel mutation in the 5'splice site of exon 4 of the TCOF1 gene in the patient with Treacher Collins syndrome. Am J Med Genet, 2003,123A:169-171. 被引量:1
6Rovin S, Dachi SF, Borenstein DB, et al. Mandibulofacial dysostosis,a familial study of five generations. J Pediatr, 1964, 65:215-221. 被引量:1
7Fazen LE, Elmore J, Nadler HL. Mandibulo-facial dysostosis.(Treacher Collins syndrome). Am J Dis Child , 1967,113: 405-410. 被引量:1
8Jones KL , Smith DW , Harvey MA , et al. Older paternal age and fresh gene mutation: data on additional disorders. J Pediatr,1975,86: 84-88. 被引量:1
9Dixon MJ, Read AP, Donnai D, et al, The gene for Treacher Collins syndrome maps to the long arm of chromosome 5. Am J Hum Genet, 1991,49: 17-22. 被引量:1
10Jabs EW , Li X , Coss CA , et al. Mapping the Treacher Collins syndrome locus to 5q31.3-q33.3,Genomics, 1991, 11: 193-198. 被引量:1