Presence of the R1748X mutation in the NF1 gene in a Brazilian patient with ectropion uveae

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dc.contributor.authorTrovo-Marqui, A. B.
dc.contributor.authorGoloni-Bertollo, E. M.
dc.contributor.authorTeixeira, M. F.
dc.contributor.authorTajara, E. H.
dc.contributor.institutionUniversidade de São Paulo (USP)
dc.contributor.institutionUniversidade Estadual Paulista (Unesp)
dc.date.accessioned2014-05-20T14:00:21Z
dc.date.available2014-05-20T14:00:21Z
dc.date.issued2004-01-01
dc.description.abstractCongenital ectropion uveae is a rare, nonprogressive anomaly characterized by the presence of iris pigment epithelium on the anterior surface of the iris stroma and is occasionally associated with Rieger's anomaly, Prader-Willi syndrome and neurofibromatosis type 1 (NF1). The most important complication of ectropion uveae is congenital or juvenile glaucoma. We described a patient with ectropion and the mutation R1748X in the NF1 gene. This is the third report in the literature describing ectropion associated with neurofibromatosis. If this association is confirmed by other authors, the NF1 patients should be examined for the presence of ectropion and, consequently, for the development of glaucoma. Copyright (C) 2004 S. Karger AG, Basel.en
dc.description.affiliationFac Med FAMERP, Dept Biol Mol, Programa NF1, BR-15090000 Sao Jose do Rio Preto, SP, Brazil
dc.description.affiliationUniv Estadual Paulista, UNESP, IBILCE, Dept Biol, Sao Jose do Rio Preto, Brazil
dc.description.affiliationUnespUniv Estadual Paulista, UNESP, IBILCE, Dept Biol, Sao Jose do Rio Preto, Brazil
dc.format.extent349-352
dc.identifierhttp://dx.doi.org/10.1159/000081638
dc.identifier.citationOphthalmic Research. Basel: Karger, v. 36, n. 6, p. 349-352, 2004.
dc.identifier.doi10.1159/000081638
dc.identifier.issn0030-3747
dc.identifier.urihttp://hdl.handle.net/11449/21353
dc.identifier.wosWOS:000226022700007
dc.language.isoeng
dc.publisherKarger
dc.relation.ispartofOphthalmic Research
dc.relation.ispartofjcr1.826
dc.relation.ispartofsjr0,817
dc.rights.accessRightsAcesso restrito
dc.sourceWeb of Science
dc.subjectectropion uveaept
dc.subjectneurofibromatosis type 1pt
dc.subjectmutationpt
dc.titlePresence of the R1748X mutation in the NF1 gene in a Brazilian patient with ectropion uveaeen
dc.typeArtigo
dcterms.licensehttp://www.karger.com/Services/RightsPermissions
dcterms.rightsHolderKarger
unesp.campusUniversidade Estadual Paulista (Unesp), Instituto de Biociências Letras e Ciências Exatas, São José do Rio Pretopt

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Artigos - Biologia - IBILCE