Blepharocheilodontic (BCD) syndrome: Expanding the phenotype?

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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 [UNESP]
dc.contributor.institutionUniversidade Estadual de Campinas (UNICAMP)
dc.contributor.institutionUniversidade de São Paulo (USP)
dc.contributor.institutionUniversidade Estadual Paulista (Unesp)
dc.date.accessioned2014-05-27T11:20:53Z
dc.date.available2014-05-27T11:20:53Z
dc.date.issued2003-09-01
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.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.format.extent266-270
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.doi10.1002/ajmg.a.20223
dc.identifier.issn1552-4825
dc.identifier.scopus2-s2.0-0141837207
dc.identifier.urihttp://hdl.handle.net/11449/67385
dc.language.isoeng
dc.relation.ispartofAmerican Journal of Medical Genetics
dc.relation.ispartofjcr2.264
dc.relation.ispartofsjr1,098
dc.rights.accessRightsAcesso restrito
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.typeArtigo
dcterms.licensehttp://olabout.wiley.com/WileyCDA/Section/id-406071.html
unesp.campusUniversidade Estadual Paulista (Unesp), Faculdade de Ciências, Baurupt
unesp.departmentCiências Biológicas - FCpt

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