Gillespie Syndrome: Additional Findings And Parental Consanguinity.

dc.creatorLuquetti, Daniela Varela
dc.creatorOliveira-Sobrinho, Ruy Pires
dc.creatorGil-da-Silva-Lopes, Vera Lúcia
dc.date2007-Jun
dc.date2015-11-27T13:10:10Z
dc.date2015-11-27T13:10:10Z
dc.date.accessioned2018-03-29T01:04:58Z
dc.date.available2018-03-29T01:04:58Z
dc.identifierOphthalmic Genetics. v. 28, n. 2, p. 89-93, 2007-Jun.
dc.identifier1381-6810
dc.identifier10.1080/13816810701209495
dc.identifierhttp://www.ncbi.nlm.nih.gov/pubmed/17558851
dc.identifierhttp://repositorio.unicamp.br/jspui/handle/REPOSIP/197326
dc.identifier17558851
dc.identifier.urihttp://repositorioslatinoamericanos.uchile.cl/handle/2250/1297559
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.description89-93
dc.languageeng
dc.relationOphthalmic Genetics
dc.relationOphthalmic Genet.
dc.rightsfechado
dc.rights
dc.sourcePubMed
dc.subjectAbnormalities, Multiple
dc.subjectAniridia
dc.subjectCerebellar Ataxia
dc.subjectChild
dc.subjectConsanguinity
dc.subjectFemale
dc.subjectFinger Phalanges
dc.subjectHumans
dc.subjectIntellectual Disability
dc.subjectMale
dc.subjectSyndrome
dc.subjectToe Phalanges
dc.titleGillespie Syndrome: Additional Findings And Parental Consanguinity.
dc.typeArtículos de revistas


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