Blepharocheilodontic (BCD) syndrome: Expanding the phenotype?

dc.contributorUniversidade Estadual de Campinas (UNICAMP)
dc.contributorUniversidade de São Paulo (USP)
dc.contributorUniversidade Estadual Paulista (Unesp)
dc.date.accessioned2014-05-27T11:20:53Z
dc.date.accessioned2022-10-05T17:50:14Z
dc.date.available2014-05-27T11:20:53Z
dc.date.available2022-10-05T17:50:14Z
dc.date.created2014-05-27T11:20:53Z
dc.date.issued2003-09-01
dc.identifierAmerican Journal of Medical Genetics, v. 121 A, n. 3, p. 266-270, 2003.
dc.identifier1552-4825
dc.identifierhttp://hdl.handle.net/11449/67385
dc.identifier10.1002/ajmg.a.20223
dc.identifier2-s2.0-0141837207
dc.identifier.urihttp://repositorioslatinoamericanos.uchile.cl/handle/2250/3917041
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.
dc.languageeng
dc.relationAmerican Journal of Medical Genetics
dc.relation2.264
dc.relation1,098
dc.rightsAcesso 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?
dc.typeArtigo


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