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Ectodermal dysplasia, ectrodactyly, clefting, anophthalmia microphthalmia, and genitourinary anomalies: nosology of goltz-gorlin syndrome versus eec syndrome

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dc.contributor.authorRodini, ESO
dc.contributor.authorNardi, A.
dc.contributor.authorGuionalmeida, M. L.
dc.contributor.authorRichiericosta, A.
dc.contributor.institutionUniversidade de São Paulo (USP)
dc.contributor.institutionUniversidade Estadual Paulista (Unesp)
dc.date.accessioned2014-05-20T15:23:39Z
dc.date.available2014-05-20T15:23:39Z
dc.date.issued1992-02-01
dc.description.abstractWe report on two unrelated Brazilian girls born to normal and nonconsanguineous parents and presenting ectodermal dysplasia, ectrodactyly, clefting, tear duct anomalies, and micro/anophthalmia. The clinical picture presented by these patients suggests the diagnosis of Goltz-Gorlin (Focal dermal hypoplasia) syndrome and EEC syndrome.en
dc.description.affiliationUNIV SAO PAULO,HOSP PESQUISA & REABIL LESOES LABIO PALATAIS,SERV GENET CLIN,POB 620,BR-17043 BAURU,SP,BRAZIL
dc.description.affiliationUNIV ESTADUAL PAULISTA,DEPT CIENCIAS BIOL,BAURU,SP,BRAZIL
dc.description.affiliationUnespUNIV ESTADUAL PAULISTA,DEPT CIENCIAS BIOL,BAURU,SP,BRAZIL
dc.format.extent276-280
dc.identifierhttp://dx.doi.org/10.1002/ajmg.1320420303
dc.identifier.citationAmerican Journal of Medical Genetics. New York: Wiley-liss, v. 42, n. 3, p. 276-280, 1992.
dc.identifier.doi10.1002/ajmg.1320420303
dc.identifier.issn0148-7299
dc.identifier.urihttp://hdl.handle.net/11449/34404
dc.identifier.wosWOS:A1992HA73700002
dc.language.isoeng
dc.publisherWiley-Blackwell
dc.relation.ispartofAmerican Journal of Medical Genetics
dc.rights.accessRightsAcesso restrito
dc.sourceWeb of Science
dc.subjectMCA MALFORMATION SYNDROMESpt
dc.subjectX-LINKED INHERITANCEpt
dc.subjectGOLTZ-GORLIN SYNDROMEpt
dc.titleEctodermal dysplasia, ectrodactyly, clefting, anophthalmia microphthalmia, and genitourinary anomalies: nosology of goltz-gorlin syndrome versus eec syndromeen
dc.typeArtigo
dcterms.licensehttp://olabout.wiley.com/WileyCDA/Section/id-406071.html
dcterms.rightsHolderWiley-Blackwell
dspace.entity.typePublication
unesp.campusUniversidade Estadual Paulista (Unesp), Faculdade de Ciências, Baurupt
unesp.departmentCiências Biológicas - FCpt

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Bauru - FC - Faculdade de Ciências