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
Diterbitkan: Galenos Yayinevi 2022-03-01

Deskripsi

Subjek

electroretinogram; visual evoked potential; spastic ataxia type 8; nkx6-2 gene mutation