Author:
Jones Natalie C,Lynn Megan L,Gaudenz Karin,Sakai Daisuke,Aoto Kazushi,Rey Jean-Phillipe,Glynn Earl F,Ellington Lacey,Du Chunying,Dixon Jill,Dixon Michael J,Trainor Paul A
Publisher
Springer Science and Business Media LLC
Subject
General Biochemistry, Genetics and Molecular Biology,General Medicine
Reference37 articles.
1. Phelps, P.D., Poswillo, D. & Lloyd, G.A. The ear deformities in mandibulofacial dysostosis (Treacher Collins syndrome). Clin. Otolaryngol. 6, 15–28 (1981).
2. Rovin, S., Dachi, S.F., Borenstein, D.B. & Cotter, W.B. Mandibulofacial dysostosis, a familial study of five generations. J. Pediatr. 65, 215–221 (1964).
3. Fazen, L.E., Elmore, J. & Nadler, H.L. Mandibulo-facial dysostosis. (Treacher-Collins syndrome). Am. J. Dis. Child. 113, 405–410 (1967).
4. Edwards, S.J., Gladwin, A.J. & Dixon, M.J. The mutational spectrum in Treacher Collins syndrome reveals a predominance of mutations that create a premature-termination codon. Am. J. Hum. Genet. 60, 515–524 (1997).
5. Gladwin, A.J. et al. Treacher Collins syndrome may result from insertions, deletions or splicing mutations, which introduce a termination codon into the gene. Hum. Mol. Genet. 5, 1533–1538 (1996).
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