Publicação:
Schilbach-Rott/blepharofacioskeletal syndrome in a Brazilian patient

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dc.contributor.authorCarvalho, Daniel Rocha de
dc.contributor.authorRossi, Natalia Freitas
dc.contributor.authorSchellini, Silvana Artioli [UNESP]
dc.contributor.authorMoretti-Ferreira, Danilo [UNESP]
dc.contributor.authorRichieri-Costa, Antonio
dc.contributor.institutionUniversidade Estadual Paulista (Unesp)
dc.contributor.institutionUniversidade de São Paulo (USP)
dc.date.accessioned2014-05-20T13:36:41Z
dc.date.available2014-05-20T13:36:41Z
dc.date.issued2008-08-15
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.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.format.extent2134-2137
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.doi10.1002/ajmg.a.32428
dc.identifier.issn1552-4825
dc.identifier.lattes9420249100835492
dc.identifier.orcid0000-0002-9256-7623
dc.identifier.urihttp://hdl.handle.net/11449/12631
dc.identifier.wosWOS:000258477100014
dc.language.isoeng
dc.publisherWiley-liss
dc.relation.ispartofAmerican Journal of Medical Genetics Part A
dc.relation.ispartofjcr2.264
dc.relation.ispartofsjr1,098
dc.rights.accessRightsAcesso restrito
dc.sourceWeb of Science
dc.subjectblepharophimosisen
dc.subjectcraniofacial abnormalitiesen
dc.subjectskeletal abnormalities syndromeen
dc.titleSchilbach-Rott/blepharofacioskeletal syndrome in a Brazilian patienten
dc.typeArtigo
dcterms.licensehttp://olabout.wiley.com/WileyCDA/Section/id-406071.html
dcterms.rightsHolderWiley-liss
dspace.entity.typePublication
unesp.author.lattes9420249100835492
unesp.author.orcid0000-0002-9256-7623[4]
unesp.author.orcid0000-0002-6938-1230[3]
unesp.campusUniversidade Estadual Paulista (Unesp), Instituto de Biociências, Botucatupt
unesp.campusUniversidade Estadual Paulista (Unesp), Faculdade de Medicina, Botucatupt
unesp.departmentOftalmologia, Otorrinolaringologia e Cirurgia de Cabeça e Pescoço - FMBpt
unesp.departmentGenética - IBBpt

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Botucatu - IBB - Instituto de Biociências
Botucatu - FMB - Faculdade de Medicina