A Rare Syndrome and a Rare Association: Dandy-Walker Malformation and Cockayne Syndrome in a Child
| dc.contributor.author | Isikay, Sedat | |
| dc.contributor.author | Bilgin, Burak | |
| dc.contributor.author | Karaer, Kadri | |
| dc.contributor.author | Sirikci, Akif | |
| dc.date.accessioned | 2019-11-04T13:42:10Z | |
| dc.date.available | 2019-11-04T13:42:10Z | |
| dc.date.issued | 2019-04 | |
| dc.department | HKÜ, Sağlık Bilimleri Fakültesi, Fizyoterapi ve Rehabilitasyon Bölümü | en_US |
| dc.description.abstract | Cockayne 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.citation | Islkay, 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.doi | 10.1055/s-0038-1657759 | |
| dc.identifier.endpage | 88 | en_US |
| dc.identifier.issn | 1304-2580 | |
| dc.identifier.issn | 1875-9041 | |
| dc.identifier.issue | 2 | en_US |
| dc.identifier.scopus | 2-s2.0-85048376337 | |
| dc.identifier.scopusquality | Q4 | |
| dc.identifier.startpage | 85 | en_US |
| dc.identifier.uri | https://doi.org/10.1055/s-0038-1657759 | |
| dc.identifier.uri | https://hdl.handle.net/20.500.11782/554 | |
| dc.identifier.volume | 17 | en_US |
| dc.identifier.wos | WOS:000463605800006 | |
| dc.identifier.wosquality | N/A | |
| dc.indekslendigikaynak | Web of Science | |
| dc.indekslendigikaynak | Scopus | |
| dc.language.iso | en | |
| dc.publisher | GEORG THIEME VERLAG KG | en_US |
| dc.relation.ispartof | JOURNAL OF PEDIATRIC NEUROLOGY | |
| dc.relation.publicationcategory | Makale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı | en_US |
| dc.rights | info:eu-repo/semantics/embargoedAccess | en_US |
| dc.subject | Cockayne syndrome; Dandy-Walker malformation; child | en_US |
| dc.title | A Rare Syndrome and a Rare Association: Dandy-Walker Malformation and Cockayne Syndrome in a Child | |
| dc.type | Article |
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