A Rare Syndrome and a Rare Association: Dandy-Walker Malformation and Cockayne Syndrome in a Child

dc.contributor.authorIsikay, Sedat
dc.contributor.authorBilgin, Burak
dc.contributor.authorKaraer, Kadri
dc.contributor.authorSirikci, Akif
dc.date.accessioned2019-11-04T13:42:10Z
dc.date.available2019-11-04T13:42:10Z
dc.date.issued2019-04
dc.departmentHKÜ, Sağlık Bilimleri Fakültesi, Fizyoterapi ve Rehabilitasyon Bölümüen_US
dc.description.abstractCockayne syndrome is a rare autosomal recessive, neurodegenerative disorder characterized by a broad spectrum of clinical symptoms. Herein, we will describe a patient diagnosed with Cockayne syndrome by genetic testing who was also determined to be having Dandy-Walker malformation in brain imaging. In this article, we aimed to highlight the general characteristic findings of Cockayne syndrome and to report the togetherness of these two rare entities.en_US
dc.identifier.citationIslkay, S., Bilgin, B., Karaer, K., & Sirikci, A. (January 01, 2019). A Rare Syndrome and a Rare Association: Dandy-Walker Malformation and Cockayne Syndrome in a Child. Journal of Pediatric Neurology, 17, 2, 85-88.en_US
dc.identifier.doi10.1055/s-0038-1657759
dc.identifier.endpage88en_US
dc.identifier.issn1304-2580
dc.identifier.issn1875-9041
dc.identifier.issue2en_US
dc.identifier.scopus2-s2.0-85048376337
dc.identifier.scopusqualityQ4
dc.identifier.startpage85en_US
dc.identifier.urihttps://doi.org/10.1055/s-0038-1657759
dc.identifier.urihttps://hdl.handle.net/20.500.11782/554
dc.identifier.volume17en_US
dc.identifier.wosWOS:000463605800006
dc.identifier.wosqualityN/A
dc.indekslendigikaynakWeb of Science
dc.indekslendigikaynakScopus
dc.language.isoen
dc.publisherGEORG THIEME VERLAG KGen_US
dc.relation.ispartofJOURNAL OF PEDIATRIC NEUROLOGY
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/embargoedAccessen_US
dc.subjectCockayne syndrome; Dandy-Walker malformation; childen_US
dc.titleA Rare Syndrome and a Rare Association: Dandy-Walker Malformation and Cockayne Syndrome in a Child
dc.typeArticle

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