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dc.contributor.authorZechi-Ceide, Roseli Maria
dc.contributor.authorGuion-Almeida, Maria Leine
dc.contributor.authorde Oliveira Rodini, Elaine Sbroggio
dc.contributor.authorJesus Oliveira, Nelio Alessandro
dc.contributor.authorPassos-Bueno, Maria Rita
dc.date.accessioned2014-05-20T13:25:38Z
dc.date.available2014-05-20T13:25:38Z
dc.date.issued2007-07-01
dc.identifierhttp://dx.doi.org/10.1097/MCD.0b013e3280739753
dc.identifier.citationClinical Dysmorphology. Philadelphia: Lippincott Williams & Wilkins, v. 16, n. 3, p. 163-166, 2007.
dc.identifier.issn0962-8827
dc.identifier.urihttp://hdl.handle.net/11449/8146
dc.description.abstractIn this report, we present a boy with lower lip pits, distinct craniofacial dysmorphism with cleft lip and palate, central nervous system malformation, and severe mental retardation. Similar but less pronounced facial findings were present in his mentally normal mother and maternal grandfather, both presenting with lower lip pits. Cleft lip was present in patient's father. Analysis of the VWS1 and VWS2 regions were performed to elucidate the molecular basis of the phenotype of the propositus. Screening or mutations at the IRF6 gene detected a pathogenic mutation (c.960G > C) in the propositus and in his mother; and a single nucleotide polymorphism (c.175-5C > G) in the propositus and in his father. Clinical and genetic aspects of this case are discussed.en
dc.format.extent163-166
dc.language.isoeng
dc.publisherLippincott Williams & Wilkins
dc.relation.ispartofClinical Dysmorphology
dc.sourceWeb of Science
dc.subjectcentral nervous system malformationpt
dc.subjectcleft lip and palatept
dc.subjectIRF6 genept
dc.subjectlower lip pitspt
dc.subjectVan der Woude syndromept
dc.titleHydrocephalus and moderate mental retardation in a boy with Van der Woude phenotype and IRF6 gene mutationen
dc.typeArtigo
dcterms.licensehttp://journals.lww.com/_layouts/oaks.journals/nih.aspx
dcterms.rightsHolderLippincott Williams & Wilkins
dc.contributor.institutionUniversidade de São Paulo (USP)
dc.contributor.institutionUniversidade Estadual Paulista (Unesp)
dc.description.affiliationUSP, HRAC, Ctr Human Genome, Bauru, SP, Brazil
dc.description.affiliationUSP, Inst Biosci, Dept Genet & Evolutionary Biol, Bauru, SP, Brazil
dc.description.affiliationUniv Estadual Paulista, Hosp Reabilitacao Anomalias Craniofaciais, Clin Genet, Bauru, SP, Brazil
dc.description.affiliationUniv Estadual Paulista, Dept Biol Sci, Bauru, SP, Brazil
dc.description.affiliationUnespUniv Estadual Paulista, Hosp Reabilitacao Anomalias Craniofaciais, Clin Genet, Bauru, SP, Brazil
dc.description.affiliationUnespUniv Estadual Paulista, Dept Biol Sci, Bauru, SP, Brazil
dc.identifier.doi10.1097/MCD.0b013e3280739753
dc.identifier.wosWOS:000247674300005
dc.rights.accessRightsAcesso restrito
unesp.campusUniversidade Estadual Paulista (Unesp), Faculdade de Ciências, Baurupt
unesp.author.orcid0000-0002-4526-3336[1]
unesp.author.orcid0000-0002-9248-3008[5]
dc.relation.ispartofjcr0.427
dc.relation.ispartofsjr0,268
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