Familial coexistence of the association: Fabry's syndrome and congenital ptosis

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dc.contributor.authorKitsos, G.en
dc.contributor.authorRebapis, I.en
dc.contributor.authorDarlamitsou, L.en
dc.contributor.authorBassioukas, K.en
dc.contributor.authorPsilas, K.en
dc.date.accessioned2015-11-24T19:16:15Z
dc.date.available2015-11-24T19:16:15Z
dc.identifier.issn0181-5512-
dc.identifier.urihttps://olympias.lib.uoi.gr/jspui/handle/123456789/21634
dc.rightsDefault Licence-
dc.subjectBlepharoptosis/complications/congenital/*geneticsen
dc.subjectFabry Disease/complications/*geneticsen
dc.subjectFemaleen
dc.subjectHumansen
dc.subjectMaleen
dc.subjectPedigreeen
dc.titleFamilial coexistence of the association: Fabry's syndrome and congenital ptosisen
heal.abstractThe authors undertook a clinical and genetic study in a large family with the aim of identifying the mode of inheritance of Fabry syndrome and congenital ptosis. These two types of pathology were present to varying extents. The family pedigree consisted of 95 individuals, spanning 5 generations. Three individuals (males) were found to have Fabry syndrome and 14 (males and females) congenital ptosis. The patients with Fabry syndrome also had congenital ptosis. According to these results, Fabry syndrome is inherited by an X-linked recessive mode and congenital ptosis by an autosomal dominant mode.en
heal.accesscampus-
heal.fullTextAvailabilityTRUE-
heal.identifier.secondaryhttp://www.ncbi.nlm.nih.gov/pubmed/1779104-
heal.journalNameJ Fr Ophtalmolen
heal.journalTypepeer-reviewed-
heal.languagefr-
heal.publicationDate1991-
heal.recordProviderΠανεπιστήμιο Ιωαννίνων. Σχολή Επιστημών Υγείας. Τμήμα Ιατρικήςel
heal.typejournalArticle-
heal.type.elΆρθρο Περιοδικούel
heal.type.enJournal articleen

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