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Turkish Journal of Neurology Indexed By
  Ophthalmic Features in SPA-8 with a Homozygous Missense Variant in the Homeobox Domain of the NKX6-2 [Turk J Neurol]
Turk J Neurol. 2022; 28(1): 57-58 | DOI: 10.4274/tnd.2022.00483  

Ophthalmic Features in SPA-8 with a Homozygous Missense Variant in the Homeobox Domain of the NKX6-2

Hidayet Şener1, Duygu Gülmez Sevim2, Murat Gültekin3, Gülşah Şimşir4, Ayşe Nazlı Başak4
1Cukurca State Hospital, Clinic of Ophthalmology, Hakkari, Turkey
2Erciyes University Faculty of Medicine, Department of Ophthalmology, Kayseri, Turkey
3Erciyes University Faculty of Medicine, Department of Neurology, Kayseri, Turkey
4Koc University Faculty of Medicine, Department of Biology and Genetics, Istanbul, Turkey

Keywords: Electroretinogram, visual evoked potential, spastic ataxia type 8, NKX6-2 gene mutation


Hidayet Şener, Duygu Gülmez Sevim, Murat Gültekin, Gülşah Şimşir, Ayşe Nazlı Başak. Ophthalmic Features in SPA-8 with a Homozygous Missense Variant in the Homeobox Domain of the NKX6-2. Turk J Neurol. 2022; 28(1): 57-58

Corresponding Author: Hidayet Şener, Türkiye


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