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Please use this identifier to cite or link to this item: http://acervodigital.unesp.br/handle/11449/67385
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dc.contributor.authorLopes, Vera Lúcia Gil da Silva-
dc.contributor.authorGuion-Almeida, Maria Leine-
dc.contributor.authorRodini, Elaine Sbroggio de Oliveira-
dc.date.accessioned2014-05-27T11:20:53Z-
dc.date.accessioned2016-10-25T18:18:50Z-
dc.date.available2014-05-27T11:20:53Z-
dc.date.available2016-10-25T18:18:50Z-
dc.date.issued2003-09-01-
dc.identifierhttp://dx.doi.org/10.1002/ajmg.a.20223-
dc.identifier.citationAmerican Journal of Medical Genetics, v. 121 A, n. 3, p. 266-270, 2003.-
dc.identifier.issn1552-4825-
dc.identifier.urihttp://hdl.handle.net/11449/67385-
dc.identifier.urihttp://acervodigital.unesp.br/handle/11449/67385-
dc.description.abstractWe describe affected individuals in three generations of a family and another sporadic case, all Brazilian patients, with a combination of signs that diagnose the BCD syndrome. In addition to the cardinal signs, the sporadic case has hypothyroidism and imperforate anus, which was observed previously in one patient. The broadened phenotype and the possibility of involvement of p63 and IRF6 genes in this condition are discussed. © 2003 Wiley-Liss, Inc.en
dc.format.extent266-270-
dc.language.isoeng-
dc.sourceScopus-
dc.subjectAnkyloblepharon-
dc.subjectAnus-
dc.subjectAutosomal dominant inheritance-
dc.subjectCleft lip/palate-
dc.subjectEctodermal dysplasia-
dc.subjectImperforate-
dc.subjectIRF6 gene-
dc.subjectP63 gene-
dc.subjectinterferon-
dc.subjectinterferon regulatory factor 6-
dc.subjectprotein p53-
dc.subjectunclassified drug-
dc.subjectanus atresia-
dc.subjectblepharocheilodontic syndrome-
dc.subjectclinical examination-
dc.subjectclinical feature-
dc.subjectdisease course-
dc.subjectfamilial disease-
dc.subjectfamily history-
dc.subjectgestation period-
dc.subjecthypothyroidism-
dc.subjectmental development-
dc.subjectmotor development-
dc.subjectphenotype-
dc.subjectphysical examination-
dc.subjectpreschool child-
dc.subjectpriority journal-
dc.subjectBlepharophimosis-
dc.subjectCleft Lip-
dc.subjectCleft Palate-
dc.subjectDiagnosis, Differential-
dc.subjectDNA-Binding Proteins-
dc.subjectFamily Health-
dc.subjectHypothyroidism-
dc.subjectInterferon Regulatory Factors-
dc.subjectMembrane Proteins-
dc.subjectPhenotype-
dc.subjectPhosphoproteins-
dc.subjectSyndrome-
dc.subjectTooth Abnormalities-
dc.subjectTrans-Activators-
dc.subjectTranscription Factors-
dc.subjectTumor Suppressor Proteins-
dc.titleBlepharocheilodontic (BCD) syndrome: Expanding the phenotype?en
dc.typeoutro-
dc.contributor.institutionUniversidade Estadual de Campinas (UNICAMP)-
dc.contributor.institutionUniversidade de São Paulo (USP)-
dc.contributor.institutionUniversidade Estadual Paulista (UNESP)-
dc.description.affiliationDepartamento de Genetica Medica Faculdade de Ciencias Medicas Univ. Estadual de Campinas (UNICAMP), Campinas, São Paulo-
dc.description.affiliationGenética Clínica Hosp. Reab. Anomalias Craniofaciais Universidade de Sao Paulo (USP), Bauru-
dc.description.affiliationDepartamento de Ciencias Biologicas Faculdade de Ciências Univ. Estadual Paulista (UNESP), Bauru-
dc.description.affiliationDepartamento de Genetica Medica FCM/UNICAMP, Caixa Postal 6111, CEP 13084-971, Campinas, SP-
dc.description.affiliationUnespDepartamento de Ciencias Biologicas Faculdade de Ciências Univ. Estadual Paulista (UNESP), Bauru-
dc.identifier.doi10.1002/ajmg.a.20223-
dc.rights.accessRightsAcesso restrito-
dc.relation.ispartofAmerican Journal of Medical Genetics-
dc.identifier.scopus2-s2.0-0141837207-
Appears in Collections:Artigos, TCCs, Teses e Dissertações da Unesp

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