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3. ADULT-syndrome: an autosomal-dominant disorder with pigment anomalies, ectrodactyly, nail dysplasia, and hypodontia. Propping P; Zerres K Am J Med Genet; 1993 Mar; 45(5):642-8. PubMed ID: 8456838 [TBL] [Abstract][Full Text] [Related]
4. Unusual pattern of inheritance and orodental changes in the Ellis-van Creveld syndrome. Mostafa MI; Temtamy SA; el-Gammal MA; Mazen IM Genet Couns; 2005; 16(1):75-83. PubMed ID: 15844783 [TBL] [Abstract][Full Text] [Related]
5. A new syndrome of dwarfism, brachydactyly, nail dysplasia, and mental retardation in sibs. Tonoki H; Kishino T; Niikawa N Am J Med Genet; 1990 May; 36(1):89-93. PubMed ID: 2333912 [TBL] [Abstract][Full Text] [Related]
6. Autosomal dominant postaxial polydactyly, nail dystrophy, and dental abnormalities map to chromosome 4p16, in the region containing the Ellis-van Creveld syndrome locus. Howard TD; Guttmacher AE; McKinnon W; Sharma M; McKusick VA; Jabs EW Am J Hum Genet; 1997 Dec; 61(6):1405-12. PubMed ID: 9399901 [TBL] [Abstract][Full Text] [Related]
7. Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis. Ruiz-Perez VL; Ide SE; Strom TM; Lorenz B; Wilson D; Woods K; King L; Francomano C; Freisinger P; Spranger S; Marino B; Dallapiccola B; Wright M; Meitinger T; Polymeropoulos MH; Goodship J Nat Genet; 2000 Mar; 24(3):283-6. PubMed ID: 10700184 [TBL] [Abstract][Full Text] [Related]
8. Ellis van Creveld syndrome (chondroectodermal dysplasia, MIM 22550) in three siblings from a non-consanguineous mating. George E; DeSilva S; Lieber E; Raziuddin K; Gudavalli M J Perinat Med; 2000; 28(6):425-7. PubMed ID: 11155425 [TBL] [Abstract][Full Text] [Related]
9. Ellis-van Creveld syndrome in a Western Australian aboriginal community. Postaxial polydactyly as a heterozygous manifestation? Goldblatt J; Minutillo C; Pemberton PJ; Hurst J Med J Aust; 1992 Aug; 157(4):271-2. PubMed ID: 1435447 [TBL] [Abstract][Full Text] [Related]
10. Novel and recurrent EVC and EVC2 mutations in Ellis-van Creveld syndrome and Weyers acrofacial dyostosis. D'Asdia MC; Torrente I; Consoli F; Ferese R; Magliozzi M; Bernardini L; Guida V; Digilio MC; Marino B; Dallapiccola B; De Luca A Eur J Med Genet; 2013 Feb; 56(2):80-7. PubMed ID: 23220543 [TBL] [Abstract][Full Text] [Related]
11. Autosomal dominant preaxial deficiency, postaxial polydactyly, and hypospadias. Guttmacher AE Am J Med Genet; 1993 Apr; 46(2):219-22. PubMed ID: 8484413 [TBL] [Abstract][Full Text] [Related]
12. Corneal changes, hyperkeratosis, short stature, brachydactyly, and premature birth: a new autosomal dominant syndrome. Stern JK; Lubinsky MS; Durrie DS; Luckasen JR Am J Med Genet; 1984 May; 18(1):67-77. PubMed ID: 6234802 [TBL] [Abstract][Full Text] [Related]
13. Brachydactyly with absence of middle phalanges and hypoplastic nails. A new hereditary syndrome. Cuevas-Sosa A; GarcĂa-Segur F J Bone Joint Surg Br; 1971 Feb; 53(1):101-5. PubMed ID: 4325377 [No Abstract] [Full Text] [Related]
14. ROR2 is mutated in hereditary brachydactyly with nail dysplasia, but not in Sorsby syndrome. Bacchelli C; Wilson LC; Cook JA; Winter RM; Goodman FR Clin Genet; 2003 Sep; 64(3):263-5. PubMed ID: 12919145 [No Abstract] [Full Text] [Related]
15. Familial absence of middle phalanges with nail dysplasia: a new syndrome. Bass HN Pediatrics; 1968 Aug; 42(2):318-23. PubMed ID: 5663738 [No Abstract] [Full Text] [Related]
16. Two novel heterozygous mutations of EVC2 cause a mild phenotype of Ellis-van Creveld syndrome in a Chinese family. Shen W; Han D; Zhang J; Zhao H; Feng H Am J Med Genet A; 2011 Sep; 155A(9):2131-6. PubMed ID: 21815252 [TBL] [Abstract][Full Text] [Related]
17. [Syndromes 21: Ellis-Van Creveld syndrome]. Baart JA; van Hagen JM Ned Tijdschr Tandheelkd; 2000 Jun; 107(6):242-3. PubMed ID: 11385805 [TBL] [Abstract][Full Text] [Related]
18. [From gene to disease; EVC, EVC2, and Ellis-van Creveld syndrome]. van Hagen JM; Baart JA; Gille JJ Ned Tijdschr Geneeskd; 2005 Apr; 149(17):929-31. PubMed ID: 15884406 [TBL] [Abstract][Full Text] [Related]
19. Hereditary hypodontia and onychorrhexis of the fingernails and toenail koilonychia: Witkop's tooth-and nail syndrome. Zabawski EJ; Cohen JB Dermatol Online J; 1999 May; 5(1):3. PubMed ID: 10673446 [TBL] [Abstract][Full Text] [Related]
20. Lacrimo-auriculo-dento-digital syndrome: evidence for lower limb involvement and severe congenital renal anomalies. Bamforth JS; Kaurah P Am J Med Genet; 1992 Aug; 43(6):932-7. PubMed ID: 1415342 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]