Gillespie syndrome: Additional findings and parental consanguinity

dc.creatorLuquetti, DV
dc.creatorOliveira, RP
dc.creatorGil-Da-Silva-Lopes, VL
dc.date2007
dc.date2014-11-19T13:24:15Z
dc.date2015-11-26T18:03:28Z
dc.date2014-11-19T13:24:15Z
dc.date2015-11-26T18:03:28Z
dc.date.accessioned2018-03-29T00:45:21Z
dc.date.available2018-03-29T00:45:21Z
dc.identifierOphthalmic Genetics. Taylor & Francis Inc, v. 28, n. 2, n. 89, n. 93, 2007.
dc.identifier1381-6810
dc.identifierWOS:000247875200008
dc.identifier10.1080/13816810701209495
dc.identifierhttp://www.repositorio.unicamp.br/jspui/handle/REPOSIP/68055
dc.identifierhttp://www.repositorio.unicamp.br/handle/REPOSIP/68055
dc.identifierhttp://repositorio.unicamp.br/jspui/handle/REPOSIP/68055
dc.identifier.urihttp://repositorioslatinoamericanos.uchile.cl/handle/2250/1292547
dc.descriptionAniridia is a rare condition whose presence should alert clinicians to the possibility of other abnormalities. One of the differential diagnoses that should be considered is Gillespie syndrome, in which aniridia is associated with cerebellar ataxia and mental retardation. There are only 21 reported cases of Gillespie syndrome. The goal of this paper is to describe the clinical manifestations of a girl born to a consanguineous couple who presented with typical findings of the Gillespie syndrome, in addition to previously undescribed alterations of her distal extremities.
dc.description28
dc.description2
dc.description89
dc.description93
dc.languageen
dc.publisherTaylor & Francis Inc
dc.publisherPhiladelphia
dc.publisherEUA
dc.relationOphthalmic Genetics
dc.relationOphthalmic Genet.
dc.rightsfechado
dc.rightshttp://journalauthors.tandf.co.uk/permissions/reusingOwnWork.asp
dc.sourceWeb of Science
dc.subjectaniridia
dc.subjectcerebellar ataxia
dc.subjectgillespie syndrome
dc.subjectdigital abnormalities
dc.subjectCerebellar-ataxia
dc.subjectMental-retardation
dc.subjectPartial Aniridia
dc.subjectOligophrenia
dc.titleGillespie syndrome: Additional findings and parental consanguinity
dc.typeArtículos de revistas


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