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DC Field | Value | Language |
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dc.contributor.author | Rodini, ESO | - |
dc.contributor.author | Nardi, A. | - |
dc.contributor.author | Guionalmeida, M. L. | - |
dc.contributor.author | Richiericosta, A. | - |
dc.date.accessioned | 2014-05-20T15:23:39Z | - |
dc.date.accessioned | 2016-10-25T17:57:39Z | - |
dc.date.available | 2014-05-20T15:23:39Z | - |
dc.date.available | 2016-10-25T17:57:39Z | - |
dc.date.issued | 1992-02-01 | - |
dc.identifier | http://dx.doi.org/10.1002/ajmg.1320420303 | - |
dc.identifier.citation | American Journal of Medical Genetics. New York: Wiley-liss, v. 42, n. 3, p. 276-280, 1992. | - |
dc.identifier.issn | 0148-7299 | - |
dc.identifier.uri | http://hdl.handle.net/11449/34404 | - |
dc.identifier.uri | http://acervodigital.unesp.br/handle/11449/34404 | - |
dc.description.abstract | We 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.format.extent | 276-280 | - |
dc.language.iso | eng | - |
dc.publisher | Wiley-Blackwell | - |
dc.source | Web of Science | - |
dc.subject | MCA MALFORMATION SYNDROMES | pt |
dc.subject | X-LINKED INHERITANCE | pt |
dc.subject | GOLTZ-GORLIN SYNDROME | pt |
dc.title | Ectodermal dysplasia, ectrodactyly, clefting, anophthalmia microphthalmia, and genitourinary anomalies: nosology of goltz-gorlin syndrome versus eec syndrome | en |
dc.type | outro | - |
dc.contributor.institution | Universidade de São Paulo (USP) | - |
dc.contributor.institution | Universidade Estadual Paulista (UNESP) | - |
dc.description.affiliation | UNIV SAO PAULO,HOSP PESQUISA & REABIL LESOES LABIO PALATAIS,SERV GENET CLIN,POB 620,BR-17043 BAURU,SP,BRAZIL | - |
dc.description.affiliation | UNIV ESTADUAL PAULISTA,DEPT CIENCIAS BIOL,BAURU,SP,BRAZIL | - |
dc.description.affiliationUnesp | UNIV ESTADUAL PAULISTA,DEPT CIENCIAS BIOL,BAURU,SP,BRAZIL | - |
dc.identifier.doi | 10.1002/ajmg.1320420303 | - |
dc.identifier.wos | WOS:A1992HA73700002 | - |
dc.rights.accessRights | Acesso restrito | - |
dc.relation.ispartof | American Journal of Medical Genetics | - |
Appears in Collections: | Artigos, TCCs, Teses e Dissertações da Unesp |
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