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Ophthalmic Features in SPA-8 with a Homozygous Missense Variant in the Homeobox Domain of the NKX6-2
oleh: Hidayet Şener, Duygu Gülmez Sevim, Murat Gültekin, Gülşah Şimşir, Ayşe Nazlı Başak
Format: | Article |
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Diterbitkan: | Galenos Yayinevi 2022-03-01 |
Deskripsi
Subjek
electroretinogram; visual evoked potential; spastic ataxia type 8; nkx6-2 gene mutation