Schilbach-Rott/blepharofacioskeletal syndrome in a Brazilian patient

dc.contributorUniversidade Estadual Paulista (Unesp)
dc.contributorUniversidade de São Paulo (USP)
dc.date.accessioned2014-05-20T13:36:41Z
dc.date.accessioned2022-10-05T13:49:20Z
dc.date.available2014-05-20T13:36:41Z
dc.date.available2022-10-05T13:49:20Z
dc.date.created2014-05-20T13:36:41Z
dc.date.issued2008-08-15
dc.identifierAmerican Journal of Medical Genetics Part A. Hoboken: Wiley-liss, v. 146A, n. 16, p. 2134-2137, 2008.
dc.identifier1552-4825
dc.identifierhttp://hdl.handle.net/11449/12631
dc.identifier10.1002/ajmg.a.32428
dc.identifierWOS:000258477100014
dc.identifier9420249100835492
dc.identifier0000-0002-9256-7623
dc.identifier.urihttp://repositorioslatinoamericanos.uchile.cl/handle/2250/3888435
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.
dc.languageeng
dc.publisherWiley-liss
dc.relationAmerican Journal of Medical Genetics Part A
dc.relation2.264
dc.relation1,098
dc.rightsAcesso restrito
dc.sourceWeb of Science
dc.subjectblepharophimosis
dc.subjectcraniofacial abnormalities
dc.subjectskeletal abnormalities syndrome
dc.titleSchilbach-Rott/blepharofacioskeletal syndrome in a Brazilian patient
dc.typeArtigo


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