A Rare Syndrome and a Rare Association: Dandy-Walker Malformation and Cockayne Syndrome in a Child
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Yayıncı
GEORG THIEME VERLAG KG
Erişim Hakkı
info:eu-repo/semantics/embargoedAccess
Özet
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.
Açıklama
Anahtar Kelimeler
Cockayne syndrome; Dandy-Walker malformation; child
Kaynak
JOURNAL OF PEDIATRIC NEUROLOGY
WoS Q Değeri
Scopus Q Değeri
Cilt
17
Sayı
2
Künye
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.










