SciELO - Scientific Electronic Library Online

SciELO - Scientific Electronic Library Online

Referencias del artículo

MEZA ESCOBAR, Luis Enrique; ISAZA, Carolina  y  PACHAJOA, Harry. Síndrome de ectrodactilia, displasia ectodérmica y fisura de labio/paladar, informe de un caso con expresividad variable. Arch. argent. pediatr. [online]. 2012, vol.110, n.5, pp. e95-e98. ISSN 0325-0075.

    1. Hennekam RCM, Krantz ID, Allanson JE. Orofacial clefting syndromes: common and well-known syndromes. En: Gorlin´s syndromes of the head and neck. 5th Ed. Oxford: Oxford University Press; 2010.Págs.973-1010. [ Links ]

    2. Roelfsema NM, Cobben JM. The EEC syndrome: a literature study. Clin Dysmorphol 1996;5(2):115-27. [ Links ]

    3. Rdiger R, Haase W, Passarge E. Association of ectrodactyly, ectodermal dysplasia, and cleft lip-palate. Am J Dis child 1970;120(2):160-3. [ Links ]

    4. Brunner HG, Hamel BCJ, van Bokhoven H. The p63 gene in EEC and other syndromes. J Med Genet 2002;39(6): 377-81. [ Links ]

    5. OMIM, Online Mendelian inheritance in man database Internet. Johns Hopkins University and National Center for Biotechnology Information. [Acceso: 13 febrero 2012]. Disponible en: http://omim.org/entry/129900?search=EEC%26highlight=eec [ Links ]

    6. Yang A, Schweitzer R, Sun D, Kaghad M, et al. p63 is essential for regenerative proliferation in limb, craniofacial, and epithelial development. Nature 1999;398(6729):714-8. [ Links ]

    7. Van Bokhoven H, Hamel BCJ, Bamshad M, Sangiorgi E, et al. p63 gene mutations in EEC syndrome, limb-mammary syndrome, and isolated split hand split foot malformation suggest a genotype-phenotype correlation. Am J Hum Genet 2001;69(3):481-92. [ Links ]

    8. Amiel J, Bougeard G, Francannet C, Raclin V, et al. TP63 gene mutation in ADULT syndrome. Eur J Hum Genet 2001;9(8):642-5. [ Links ]

    9. Duijf PHG, Vanmolkot KRJ, Propping P, et al. Gain-of-function mutation in ADULT syndrome reveals the presence of a second transactivation domain in p63. Hum Mol Genet 2002;11(7):799-804. [ Links ]

    10. Ianakiev P, Kilpatrick MW, Toudjarska I, Basel D, et al. Split-hand/split-foot malformation is caused by mutations in the p63 gene on 3q27. Am J Hum Genet 2000;67(1):59-66. [ Links ]

    11. Cortez-Franco F, García-Salas S, Medina-Flores J. Síndrome de ectrodactilia, displasia ectodérmica y paladar hendido (EEC) y dermatitis: reporte de un caso. Dermatol Peru 2005;15(1):56-9. [ Links ]

    12. Stanier P, Moore GE. Genetics of cleft lip and palate: syndromic genes contribute to the incidence of non-syndromic clefts. Hum Mol Genet 2004;13(Spec N1):R73-81. [ Links ]

    13. Kohler R, Sousa P, Jorge CS. Prenatal diagnosis of the ectrodactyly, ectodermal dysplasia, cleft palate (EEC) syndrome. J Ultrasound Med 1989;8(6):337-9. [ Links ]

    14. Robin N, Baty H, Franklin J, Guyton F, et al. The multidisciplinary evaluation and management of cleft lip and palate. Review article. South Med J 2006;99(10):1111-20. [ Links ]

    15. Pettit S, Campbell PR. Ectrodactyly-ectodermal dysplasiaclefting syndrome: the oral hygiene management of a patient with EEC. Spec Care Dentist 2010;30(6):250-4. [ Links ]