* Arn, Pamela Hawks et al (1993). Mild mandibulofacial dysostosis in a child with a deletion of 3p. Am. J. of Med. Genetics, 46(5):534-536.

* Balestrazzi, P. et al (1983). Franceschetti syndrome in a child with a de novo balanced translocation (5;13) (q11;p11) and signficant decrease of hexosaminidase B. HumanGenetics, 64:305-308.

* Blatt, Robin J.R. et al (1992). The Human Genome Project. Genetic Resource, 6(2):1-124.

Chiu, I.M. et al. (1994). Construction of a yeast artificial chromosome contig encompassing the human acidic fibroblast growth factor (FGF1) gene: toward the cloning of the ANLL/MDS tumor-suppressor gene. Genomics, 19(3):552-60.

Dixon, J. et al (1994). A YAC contig encompassing the Treacher Collins syndrome critical region at 5q31.3-32. Am J Hum Genet, 55(2):372-8.

Dixon, M.J. et al (1994). Treacher Collins syndrome: correlation between clinical and genetic linkage studies. Clinical Dysmorphology, 3(2):96-103.

* Dixon, M.J. et al (1993). Narrowing the position of the Treacher Collins syndrome locus to a small interval between three new microsatellite markers at 5q32-33.1. Am. J. Hum. Genet., 52(5):907-914.

* Dixon, M.J. et al (1991). The gene for Treacher Collinssyndrome maps to the long arm of chromosome 5. Am. J. Hum. Genet. 49(1):17-22.

* Dixon, M.J. et al (1991). Association of Treacher Collins syndrome and translocation 6p21.31/16p13.11: exclusion of the locus from these candidate regions. Am. J. Hum. Genet., 48(2):274-280.

Hansen, M. et al (1996). Treacher Collins syndrome - Phenotypic variability in a family including an infant with arhinia and uveal colobomas. Am J of Med Genetics, 61(1):71-74.

* Jabs, E.W. et al (1993). Genetic physical mapping of the Treacher Collins syndrome locus with respect to loci in the chromosome 5 region. Genomics, 18:7-13.

* Jabs, E.W. et al (1991). Chromosomal deletion 4p15.32-p14 in a Treacher Collins syndrome patient: exclusion of the disease locus from and mapping of annonymous DNA sequences to this region. Genomics, 11:188-192.

* Jabs, E.W. et al (1991). Mapping the Treacher Collins syndrome locus to 5q31.3-5q33.3. Genomics, 11:193-198.

* Jarvis, B.L., Johnston, M.C. and Sulik, K.K. (1990). Congenital malformations of the external, middle, and inner ear produced by isotretinoin exposure in mouse embryos. Otolaryngology - head and neck surgery, 102(4):391-401.

* Jones, K.L., Smith, D.W., Harvey, M.A.S., Hall, B.D. and Quan, L. (1975). Older paternal age and fresh gene mutation: data on additional disorders.J. Pediat. 86:84-88.

Li, X. et al (1994). A YAC contig of approximately 3 Mb from human chromosome 5q31-->q33. Genomics, 19(3):470-7.

* Lowry, R.B. et al (1985). Mandibulofacial dysostosis in Hutterite sibs: a possible recessive trait. Am. J. Med. Genet., 22(3):501-512.

* Martinez-Frias, M.L. et al (1988). Prevalence of dominant mutations in Spain: effect of changes in maternal age distribution. Am J of Med Gen, 31(4):845-852.

* Mellman, W.J. (1975). On the risk of fresh gene mutation in older men".J. Pediat., 86:165-166.

Milligan, D.A. et al (1994). Recurrence of Treacher Colins syndrome with sonographic findings. Mil Med, 159(3):250-2.

Oliveira, C.A., Pinheiro, L.C., and Gomes, M.R. (1989). External and middle ear malformations: autosomal dominant genetic transmission. Ann of Otology, Rhinology, and Laryngology, 98(10):772-776.

Poswillo, D. (1988). The etiology and pathogenesis of craniofacial deformity.Development, 103 Suppl.:207-212.

* Pyeritz, RE: Clinical Practice and health insurance in genetics. In Weiss JO et al (eds): Genetic Disorders and Birth Defects. White Plains: March of Dimes Birth Defects Foundation, BD:OAS 20 (4):230-239, 1984.

Richiericosta, A. et al (1993). Mandibularfacial dysostosis: Report on two Brazilian families suggesting autosomal recessive inheritance. Am J Med Gen, 46(6):659-664.

* Richiericosta, A. et al (1991). Sporadic, idiopathic MCA syndrome with mandibulofacial dysostosis and tibial hemimelia. Am J Med Gen, 41(3):330-332.

* Robb, L.J., Fraser, F.C., and Der Kaloustian, V.M. (1991). Treacher Collins - Franceschetti syndrome with tracheoesopageal fistula, rectovaginal fistula, and anal atresia: variant or new syndrome (letter), Am J Med Genet, 39(1):119-120.

* Rogatka, A. et al (1986). A Bayesian method for the estimation of penetrance: application to mandibulofacial and frontonasal dysostoses. Am J Med Genet, 24(2):231-246.

* Rovin, S., Dachi, S.F., Borenstein, D.B. and Cotter, W.B. 1964). Mandibulofacial dysostosis, a familial study of five generations. J Pediat, 65:215-221.

* Sailer, H.F., et al (1994). Inherited Treacher Collins syndrome in twins after artificial insemination. J Craniofac Surg, 5:127-129.

Saltman, D.L. et al (1993). A physical map of 15 loci on human chromosome 5q23-q33 by two color fluorescence in situhybridization. Genomics, 16(3):726-732.

* Scheuerle, A. (1995). Facilitating diagnosis, prognosis, and management: distinguishing isolated and syndromic anomalies. J Craniofac Surg, 5:208-217.

Smith, SD. (1995). Overview of genetic auditory syndromes. J Am Acad Audiol , 6:1-14.

* Sulik, K.K., Johnston, M.C., Smiley, S.J., Speight, H.S. and Jarvis, B.E. (1987). Mandibulofacial dysostosis (Treacher Collins syndrome): a new proposal for its pathogenesis. Am J Med Genet 27:359-372.

* Sulik, K., Smiley, S.J., Turvey, T.A., Speight, H.S., and Johnston, M.C. (1989). Pathogenesis of cleft palate in Treacher Collins, Nager, and Miller syndromes. Cleft Palate J, 26(3)209-216, disc. 216.

*The Treacher Collins Syndrome Collaborative Group (1996). Positional cloning of a gene involved in the pathogenesis of Treacher Collins syndrome. Nature Genetics , (12)130-136.

Weiss, JO, et al: Genetic Disorders and Birth Defects in Families and Society:TowardInterdisciplinary Understanding. White Plains, NY: March of Dimes Birth Defects Foundation, BD:OAS20(4), 1984.

Zelante, L. et al (1993). Confirmation of the mandibulofacial dysostosis, Toriello type (letter.) Am J Med Gen 45(4):534-535.