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Please use this identifier to cite or link to this item: http://acervodigital.unesp.br/handle/11449/12631
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dc.contributor.authorCarvalho, Daniel Rocha de-
dc.contributor.authorRossi, Natalia Freitas-
dc.contributor.authorSchellini, Silvana Artioli-
dc.contributor.authorMoretti-Ferreira, Danilo-
dc.contributor.authorRichieri-Costa, Antonio-
dc.date.accessioned2014-05-20T13:36:41Z-
dc.date.accessioned2016-10-25T16:53:38Z-
dc.date.available2014-05-20T13:36:41Z-
dc.date.available2016-10-25T16:53:38Z-
dc.date.issued2008-08-15-
dc.identifierhttp://dx.doi.org/10.1002/ajmg.a.32428-
dc.identifier.citationAmerican Journal of Medical Genetics Part A. Hoboken: Wiley-liss, v. 146A, n. 16, p. 2134-2137, 2008.-
dc.identifier.issn1552-4825-
dc.identifier.urihttp://hdl.handle.net/11449/12631-
dc.identifier.urihttp://acervodigital.unesp.br/handle/11449/12631-
dc.description.abstractWe report on a 4-year-old girl with blepharophimosis, a typical facial gestalt and skeletal abnormalities seen in the blepharofacioskeletal syndrome (BFSS). A comparative review with previous cases provides further evidence that BFSS and Schilbach-Rott syndrome (SRS) are the same condition. (C) 2008 Wiley-Liss, Inc.en
dc.format.extent2134-2137-
dc.language.isoeng-
dc.publisherWiley-liss-
dc.sourceWeb of Science-
dc.subjectblepharophimosisen
dc.subjectcraniofacial abnormalitiesen
dc.subjectskeletal abnormalities syndromeen
dc.titleSchilbach-Rott/blepharofacioskeletal syndrome in a Brazilian patienten
dc.typeoutro-
dc.contributor.institutionUniversidade Estadual Paulista (UNESP)-
dc.contributor.institutionUniversidade de São Paulo (USP)-
dc.description.affiliationUNESP, Inst Biociencias, Dept Genet, Serv Aconselhamento Genet, BR-18618000 Botucatu, SP, Brazil-
dc.description.affiliationUNESP, Fac Med Botucatu, Dept Oftalmol Otorrinolaringol & Cirugia Cabeca &, BR-18618000 Botucatu, SP, Brazil-
dc.description.affiliationUniv São Paulo, Hosp Reabilitacao Anomalias Craniofaciais, Serv Genet Clin, Bauru, SP, Brazil-
dc.description.affiliationUnespUNESP, Inst Biociencias, Dept Genet, Serv Aconselhamento Genet, BR-18618000 Botucatu, SP, Brazil-
dc.description.affiliationUnespUNESP, Fac Med Botucatu, Dept Oftalmol Otorrinolaringol & Cirugia Cabeca &, BR-18618000 Botucatu, SP, Brazil-
dc.identifier.doi10.1002/ajmg.a.32428-
dc.identifier.wosWOS:000258477100014-
dc.rights.accessRightsAcesso restrito-
dc.relation.ispartofAmerican Journal of Medical Genetics Part A-
dc.identifier.orcid0000-0002-9256-7623pt
Appears in Collections:Artigos, TCCs, Teses e Dissertações da Unesp

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