Publication:
Ophthalmologic Findings in a Case of Sjögren-Larsson Syndrome

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dc.authorscopusid59055079200
dc.authorscopusid8540670800
dc.authorscopusid24740979600
dc.authorscopusid7005906397
dc.contributor.authorDemir, S.
dc.contributor.authorBeden, Ü.
dc.contributor.authorÖzarslan, M.
dc.contributor.authorErkan, D.
dc.date.accessioned2025-12-10T21:46:23Z
dc.date.issued2009
dc.departmentOndokuz Mayıs Üniversitesien_US
dc.department-temp[Demir] Selim, Faculty of Medicine, Ondokuz Mayis Üniversitesi, Samsun, Turkey; [Beden] Ümit, Faculty of Medicine, Ondokuz Mayis Üniversitesi, Samsun, Turkey; [Özarslan] Mehtap, Faculty of Medicine, Ondokuz Mayis Üniversitesi, Samsun, Turkey; [Erkan] Dilek, Faculty of Medicine, Ondokuz Mayis Üniversitesi, Samsun, Turkeyen_US
dc.description.abstractSjögren-Larsson syndrome (SLS) is a recessively inherited disorder characterized by congenital icthyosis, spastic diplegia and mental retardation. The disorder is caused by mutations in the aldehyde dehydrogenase family 3, subfamily A2 gene on 17th cromosome. Patients exibit highly charecteristic bilateral, glistening yellow-white retinal dots from the age of 1 to 2 years onward. We report on ophthalmological features of SLS in our 9 years old female patient.en_US
dc.identifier.endpage68en_US
dc.identifier.issn1300-1256
dc.identifier.issue1en_US
dc.identifier.scopus2-s2.0-77955979011
dc.identifier.scopusqualityQ4
dc.identifier.startpage65en_US
dc.identifier.urihttps://hdl.handle.net/20.500.12712/34810
dc.identifier.volume17en_US
dc.identifier.wosqualityN/A
dc.language.isotren_US
dc.relation.ispartofRetina-Vitreusen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectCrystalline Retinopathyen_US
dc.subjectIchthyosisen_US
dc.subjectMental Retardationen_US
dc.subjectSjögren-Larsson Syndromeen_US
dc.titleOphthalmologic Findings in a Case of Sjögren-Larsson Syndromeen_US
dc.title.alternativeSjögren–Larsson Sendromu ve Bir Olgumuzda Göz Muayene Bulgularıen_US
dc.typeArticleen_US
dspace.entity.typePublication

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