K. M. Zangwill, D. K. Boal, R. L. Ladda: Dandy-Walker malformation in Ellis-van Creveld syndrome. In: American journal of medical genetics. Band 31, Nummer 1, September 1988, S. 123–129, ISSN0148-7299. doi:10.1002/ajmg.1320310114. PMID 3223493.
M. H. Polymeropoulos, S. E. Ide u. a.: The gene for the Ellis-van Creveld syndrome is located on chromosome 4p16. In: Genomics. Band 35, Nummer 1, Juli 1996, S. 1–5, ISSN0888-7543. doi:10.1006/geno.1996.0315. PMID 8661097.
V. L. Ruiz-Perez, S. E. Ide u. a.: Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis. In: Nature genetics. Band 24, Nummer 3, März 2000, S. 283–286, ISSN1061-4036. doi:10.1038/73508. PMID 10700184.
S. W. Tompson, V. L. Ruiz-Perez u. a.: Sequencing EVC and EVC2 identifies mutations in two-thirds of Ellis-van Creveld syndrome patients. In: Human genetics. Band 120, Nummer 5, Januar 2007, S. 663–670, ISSN0340-6717. doi:10.1007/s00439-006-0237-7. PMID 17024374.
S. Al-Khenaizan, N. Al-Sannaa, A. S. Teebi: What syndrome is this? Chondroectodermal dysplasia–the Ellis-van Creveld syndrome. In: Pediatric Dermatology. Band 18, Nummer 1, 2001 Jan-Feb, S. 68–70, ISSN0736-8046. PMID 11207979.
K. M. Zangwill, D. K. Boal, R. L. Ladda: Dandy-Walker malformation in Ellis-van Creveld syndrome. In: American journal of medical genetics. Band 31, Nummer 1, September 1988, S. 123–129, ISSN0148-7299. doi:10.1002/ajmg.1320310114. PMID 3223493.
M. H. Polymeropoulos, S. E. Ide u. a.: The gene for the Ellis-van Creveld syndrome is located on chromosome 4p16. In: Genomics. Band 35, Nummer 1, Juli 1996, S. 1–5, ISSN0888-7543. doi:10.1006/geno.1996.0315. PMID 8661097.
V. L. Ruiz-Perez, S. E. Ide u. a.: Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis. In: Nature genetics. Band 24, Nummer 3, März 2000, S. 283–286, ISSN1061-4036. doi:10.1038/73508. PMID 10700184.
V. L. Ruiz-Perez, S. W. Tompson u. a.: Mutations in two nonhomologous genes in a head-to-head configuration cause Ellis-van Creveld syndrome. In: American Journal of Human Genetics. Band 72, Nummer 3, März 2003, S. 728–732, ISSN0002-9297. PMID 12571802. PMC 1180248 (freier Volltext).
M. Galdzicka, S. Patnala u. a.: A new gene, EVC2, is mutated in Ellis-van Creveld syndrome. In: Molecular Genetics and Metabolism. Band 77, Nummer 4, Dezember 2002, S. 291–295, ISSN1096-7192. PMID 12468274.
S. W. Tompson, V. L. Ruiz-Perez u. a.: Sequencing EVC and EVC2 identifies mutations in two-thirds of Ellis-van Creveld syndrome patients. In: Human genetics. Band 120, Nummer 5, Januar 2007, S. 663–670, ISSN0340-6717. doi:10.1007/s00439-006-0237-7. PMID 17024374.
R. W. Ellis, S. van Creveld: A Syndrome Characterized by Ectodermal Dysplasia, Polydactyly, Chondro-Dysplasia and Congenital Morbus Cordis: Report of Three Cases. In: Archives of disease in childhood. Band 15, Nummer 82, 1940, S. 65–84, ISSN0003-9888. PMID 21032169. PMC 1987729 (freier Volltext).
M. Atasu, S. Biren: Ellis-van Creveld syndrome: dental, clinical, genetic and dermatoglyphic findings of a case. In: The Journal of clinical pediatric dentistry. Band 24, Nummer 2, 2000, S. 141–145, ISSN1053-4628. PMID 11314324. (Review).
S. Al-Khenaizan, N. Al-Sannaa, A. S. Teebi: What syndrome is this? Chondroectodermal dysplasia–the Ellis-van Creveld syndrome. In: Pediatric Dermatology. Band 18, Nummer 1, 2001 Jan-Feb, S. 68–70, ISSN0736-8046. PMID 11207979.
K. M. Zangwill, D. K. Boal, R. L. Ladda: Dandy-Walker malformation in Ellis-van Creveld syndrome. In: American journal of medical genetics. Band 31, Nummer 1, September 1988, S. 123–129, ISSN0148-7299. doi:10.1002/ajmg.1320310114. PMID 3223493.
M. H. Polymeropoulos, S. E. Ide u. a.: The gene for the Ellis-van Creveld syndrome is located on chromosome 4p16. In: Genomics. Band 35, Nummer 1, Juli 1996, S. 1–5, ISSN0888-7543. doi:10.1006/geno.1996.0315. PMID 8661097.
V. L. Ruiz-Perez, S. E. Ide u. a.: Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis. In: Nature genetics. Band 24, Nummer 3, März 2000, S. 283–286, ISSN1061-4036. doi:10.1038/73508. PMID 10700184.
V. L. Ruiz-Perez, S. W. Tompson u. a.: Mutations in two nonhomologous genes in a head-to-head configuration cause Ellis-van Creveld syndrome. In: American Journal of Human Genetics. Band 72, Nummer 3, März 2003, S. 728–732, ISSN0002-9297. PMID 12571802. PMC 1180248 (freier Volltext).
M. Galdzicka, S. Patnala u. a.: A new gene, EVC2, is mutated in Ellis-van Creveld syndrome. In: Molecular Genetics and Metabolism. Band 77, Nummer 4, Dezember 2002, S. 291–295, ISSN1096-7192. PMID 12468274.
S. W. Tompson, V. L. Ruiz-Perez u. a.: Sequencing EVC and EVC2 identifies mutations in two-thirds of Ellis-van Creveld syndrome patients. In: Human genetics. Band 120, Nummer 5, Januar 2007, S. 663–670, ISSN0340-6717. doi:10.1007/s00439-006-0237-7. PMID 17024374.
R. W. Ellis, S. van Creveld: A Syndrome Characterized by Ectodermal Dysplasia, Polydactyly, Chondro-Dysplasia and Congenital Morbus Cordis: Report of Three Cases. In: Archives of disease in childhood. Band 15, Nummer 82, 1940, S. 65–84, ISSN0003-9888. PMID 21032169. PMC 1987729 (freier Volltext).
M. Atasu, S. Biren: Ellis-van Creveld syndrome: dental, clinical, genetic and dermatoglyphic findings of a case. In: The Journal of clinical pediatric dentistry. Band 24, Nummer 2, 2000, S. 141–145, ISSN1053-4628. PMID 11314324. (Review).