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Türk Nöroloji Dergisi
(Mar 2022)
Ophthalmic Features in SPA-8 with a Homozygous Missense Variant in the Homeobox Domain of the NKX6-2
Hidayet Şener,
Duygu Gülmez Sevim,
Murat Gültekin,
Gülşah Şimşir,
Ayşe Nazlı Başak
Affiliations
Hidayet Şener
Cukurca State Hospital, Clinic of Ophthalmology, Hakkari, Turkey
Duygu Gülmez Sevim
Erciyes University Faculty of Medicine, Department of Ophthalmology, Kayseri, Turkey
Murat Gültekin
Erciyes University Faculty of Medicine, Department of Neurology, Kayseri, Turkey
Gülşah Şimşir
Koc University Faculty of Medicine, Department of Biology and Genetics, Istanbul, Turkey
Ayşe Nazlı Başak
Koc University Faculty of Medicine, Department of Biology and Genetics, Istanbul, Turkey
DOI
https://doi.org/10.4274/tnd.2022.00483
Journal volume & issue
Vol. 28, no. 1
pp. 57 – 58
Abstract
Read online
No abstracts available.
Keywords
electroretinogram
visual evoked potential
spastic ataxia type 8
nkx6-2 gene mutation
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