Bartsocas, C. S., Weber, A. L., Crawford, J. D. Acrocephalosyndactyly type 3: Chotzen's syndrome. J. Pediat. 77: 267-272, 1970.
Bianchi, D. W., Cirillo-Silengo, M., Luzzatti, L., Greenstein, R. M. Interstitial deletion of the short arm of chromosome 7 without craniosynostosis. Clin. Genet. 19: 456-461, 1981.
Bianchi, E., Arico, M., Podesta, A. F., Grana, M., Fiori, P., Beluffi, G. A family with the Saethre-Chotzen syndrome. Am. J. Med. Genet. 22: 649-658, 1985.
Bourgeois, P., Stoetzel, C., Bolcato-Bellemin, A. L., Mattei, M. G., Perrin-Schmitt, F. The human H-twist gene is located at 7p21 and encodes a B-HLH protein that is 96% similar to its murine M-twist counterpart. Mammalian Genome 7: 915-917, 1996.
Brueton, L. A., van Herwerden, L., Chotai, K. A., Winter, R. M. The mapping of a gene for craniosynostosis: evidence for linkage of the Saethre-Chotzen syndrome to distal chromosome 7p. J. Med. Genet. 29: 681-685, 1992. [
Carter, C. O., Till, K., Fraser, V., Coffey, R. A family study of craniosynostosis, with probable recognition of a distinct syndrome. J. Med. Genet. 19: 280-285, 1982.
Chotzen, F. Eine eigenartige familiaere Entwicklungsstoerung (Akrocephalosyndaktylie, Dysostosis craniofacialis und Hypertelorismus). Mschr. Kinderheilk. 55: 97-122, 1932.
Chun, K., Teebi, A. S., Jung, J. H., Kennedy, S., Laframboise, R., Meschino, W. S., Nakabayashi, K., Scherer, S. W., Roy, P. N., Teshima, I. Genetic analysis of patients with the Saethre-Chotzen phenotype. Am. J. Med. Genet. 110: 136-143, 2002.
Dollfus, H., Biswas, P., Kumaramanickavel, G., Stoetzel, C., Quillet, R., Biswas, J., Lajeunie, E., Renier, D., Perrin-Schmitt, F. Saethre-Chotzen syndrome: notable intrafamilial phenotypic variability in a large family with Q28X TWIST mutation. Am. J. Med. Genet. 109: 218-225, 2002
El Ghouzzi, V., Le Merrer, M., Perrin-Schmitt, F., Lajeunie, E., Benit, P., Renier, D., Bourgeois, P., Bolcato-Bellemin, A.-L., Munnich, A., Bonaventure, J. Mutations of the TWIST gene in the Saethre-Chotzen syndrome. Nature Genet. 15: 42-46, 1997.
Escobar, V., Brandt, I. K., Bixler, D. Unusual association of Saethre-Chotzen syndrome and congenital adrenal hyperplasia. Clin. Genet. 11: 365-371, 1977.
Howard, T. D., Paznekas, W. A., Green, E. D., Chiang, L. C., Ma, N., Ortiz De Luna, R. I., Delgado, C. G., Gonzalez-Ramos, M., Kline, A. D., Jabs, E. W. Mutations in TWIST, a basic helix-loop-helix transcription factor, in Saethre-Chotzen syndrome. Nature Genet. 15: 36-41, 1997.
Johnson, D., Horsley, S. W., Moloney, D. M., Oldridge, M., Twigg, S. R. F., Walsh, S., Barrow, M., Njolstad, P. R., Kunz, J., Ashworth, G. J., Wall, S. A., Kearney, L., Wilkie, A. O. M. A comprehensive screen for TWIST mutations in patients with craniosynostosis identifies a new microdeletion syndrome of chromosome band 7p21.1. Am. J. Hum. Genet. 63: 1282-1293, 1998.
Kopysc, Z., Stanska, M., Ryzko, J., Kulczyk, B. The Saethre-Chotzen syndrome with partial bifid of the distal phalanges of the great toes: observations of three cases in one family. Hum. Genet. 56: 195-204, 1980.
 
Kreiborg, S., Pruzansky, S., Pashayan, H. The Saethre-Chotzen syndrome. Teratology 6: 287-294, 1972.
Kress, W., Schropp, C., Lieb, G., Petersen, B., Busse-Ratzka, M., Kunz, J., Reinhart, E., Schafer, W.-D., Sold, J., Hoppe, F., Pahnke, J., Trusen, A., Sorensen, N., Krauss, J., Collmann, H. Saethre-Chotzen syndrome caused by TWIST1 gene mutations: functional differentiation from Muenke coronal synostosis syndrome. Europ. J. Hum. Genet. 14: 39-48, 2006.
Kurczynski, T. W., Casperson, S. M. Auralcephalosyndactyly: a new hereditary craniosynostosis syndrome. J. Med. Genet. 25: 491-493, 1988.
Legius, E., Fryns, J. P., Van den Berghe, H. Auralcephalosyndactyly: a new craniosynostosis syndrome or a variant of the Saethre-Chotzen syndrome? J. Med. Genet. 26: 522-524, 1989.
Lewanda, A. F., Cohen, M. M., Jr., Jackson, C. E., Taylor, E. W., Li, X., Beloff, M., Day, D., Clarren, S. K., Ortiz, R., Garcia, C., Hauselman, E., Figueroa, A., Wulfsberg, E., Wilson, M., Warman, M. L., Padwa, B. L., Whiteman, D. A. H., Mulliken, J. B., Jabs, E. W. Genetic heterogeneity among craniosynostosis syndromes: mapping the Saethre-Chotzen syndrome locus between D7S513 and D7S516 and exclusion of Jackson-Weiss and Crouzon syndrome loci from 7p. Genomics 19: 115-119, 1994.
Lewanda, A. F., Green, E. D., Weissenbach, J., Jerald, H., Taylor, E., Summar, M. L., Phillips, J. A., III, Cohen, M., Feingold, M., Mouradian, W., Clarren, S. K., Jabs, E. W. Evidence that the Saethre-Chotzen syndrome locus lies between D7S664 and D7S507, by genetic analysis and detection of a microdeletion in a patient. Am. J. Hum. Genet. 55: 1195-1201, 1994.
Ma, H. W., Lajeunie, E., de Parseval, N., Munnich, A., Renier, D., Le Merrer, M. Possible genetic heterogeneity in the Saethre-Chotzen syndrome. Hum. Genet. 98: 228-232, 1996.
Malcolm, S., Rose, C. P. S., van Herwerden, L., Reardon, W., Brueton, L., Weissenbach, J., Winter, R. M. Mapping of Saethre-Chotzen syndrome (ACS III) to 7p21. (Abstract) Am. J. Hum. Genet. 53 (suppl.): A136 only, 1993.
Marini, R., Temple, K., Chitty, L., Genet, S., Baraitser, M. Pitfalls in counselling: the craniosynostoses. J. Med. Genet. 28: 117-121, 1991.
Maw, M., Kar, B., Biswas, J., Biswas, P., Nancarrow, D., Denton, M., Bridges, R., Kumaramanickavel, G., Badrinath, S. S. Linkage of blepharophimosis syndrome in a large Indian pedigree to chromosome 7p. Hum. Molec. Genet. 5: 2049-2054, 1996.
Niemann-Seyde, S. C., Eber, S. W., Zoll, B. Saethre-Chotzen syndrome (ACS III) in four generations. Clin. Genet. 40: 271-276, 1991.
Pantke, O. A., Cohen, M. M., Jr., Witkop, C. J., Jr., Feingold, M., Schaumann, B., Pantke, H. C., Gorlin, R. J. The Saethre-Chotzen syndrome. Birth Defects Orig. Art. Ser. XI(2): 190-225, 1975.
Paznekas, W. A., Cunningham, M. L., Howard, T. D., Korf, B. R., Lipson, M. H., Grix, A. W., Feingold, M., Goldberg, R., Borochowitz, Z., Aleck, K., Mulliken, J., Yin, M., Jabs, E. W. Genetic heterogeneity of Saethre-Chotzen syndrome, due to TWIST and FGFR mutations. Am. J. Hum. Genet. 62: 1370-1380, 1998.
Reardon, W., Winter, R. M. Saethre-Chotzen syndrome. J. Med. Genet. 31: 393-396, 1994.
Reid, C. S., McMorrow, L. E., McDonald-McGinn, D. M., Grace, K. J., Ramos, F. J., Zackai, E. H., Cohen, M. M., Jr., Jabs, E. W. Saethre-Chotzen syndrome with familial translocation at chromosome 7p22. Am. J. Med. Genet. 47: 637-639, 1993.
Rose, C. S. P., King, A. A. J., Summers, D., Palmer, R., Yang, S., Wilkie, A. O. M., Reardon, W., Malcolm, S., Winter, R. M. Localization of the genetic locus for Saethre-Chotzen syndrome to a 6 cM region of chromosome 7 using four cases with apparently balanced translocations at 7p21.2. Hum. Molec. Genet. 3: 1405-1408, 1994.
Russo, R., D'Armiento, M., Vecchione, R. Renal tubular dysgenesis and very large cranial fontanels in a family with acrocephalosyndactyly S.C. type. Am. J. Med. Genet. 39: 482-485, 1991.
Sahlin, P., Windh, P., Lauritzen, C., Emanuelsson, M., Gronberg, H., Stenman, G. Women with Saethre-Chotzen syndrome are at increased risk of breast cancer. Genes Chromosomes Cancer 46: 656-660, 2007.
Wilkie, A. O. M., Yang, S. P., Summers, D., Poole, M. D., Reardon, W., Winter, R. M. Saethre-Chotzen syndrome associated with balanced translocations involving 7p21: three further families. J. Med. Genet. 32: 174-180, 1995.
Zackai, E. H., Stolle, C. A. A new twist: some patients with Saethre-Chotzen syndrome have a microdeletion syndrome. (Editorial) Am. J. Hum. Genet. 63: 1277-1281, 1998.