Ophthalmic Features in SPA-8 with a Homozygous Missense Variant in the Homeobox Domain of the NKX6-2
Yıl: 2022 Cilt: 28 Sayı: 1 Sayfa Aralığı: 57 - 58 Metin Dili: İngilizce DOI: 10.4274/tnd.2022.00483 İndeks Tarihi: 22-05-2023
Ophthalmic Features in SPA-8 with a Homozygous Missense Variant in the Homeobox Domain of the NKX6-2
Öz: -
Anahtar Kelime: NKX6-2’nin Homeobox Alanında Homozigot Yanlış Anlamlı Varyantı Olan SPA-8’deki Oftalmik Özellikleri
Öz: -
Anahtar Kelime: Belge Türü: Makale Makale Türü: Diğer Erişim Türü: Erişime Açık
- 1. Bereshneh AH, Hosseipour S, Rasoulinezhad MS. Expanding the clinical and neuroimaging features of NKX6-2-related hereditary spastic ataxia type 8. Eur J Med Genet 2020;63:103868.
- 2. Almatrafi A, Umair M, Eldardear A, et al. A homozygous missense variant in the homeobox domain of the NKX6-2 results in progressive spastic ataxia type 8 associated with lower limb weakness and neurological manifestations. J Gene Med 2020;22:e3196.
- 3. Chelban V, Alsagob M, Kloth K, et al. Genetic and phenotypic characterization of NKX6-2-related spastic ataxia and hypomyelination. Eur J Neurol 2020;27:334-342.
- 4. Chelban V, Patel N, Vandrovcova J, et al. Mutations in NKX6-2 cause progressive spastic ataxia and hypomyelination. Am J of Hum Genet 2017;100:969-977.
| APA | Sener H, Gülmez Sevim D, GULTEKIN M, Simsir G, Başak A (2022). Ophthalmic Features in SPA-8 with a Homozygous Missense Variant in the Homeobox Domain of the NKX6-2. , 57 - 58. 10.4274/tnd.2022.00483 |
| Chicago | Sener Hidayet,Gülmez Sevim Duygu,GULTEKIN MURAT,Simsir Gulsah,Başak Ayşe Nazlı Ophthalmic Features in SPA-8 with a Homozygous Missense Variant in the Homeobox Domain of the NKX6-2. (2022): 57 - 58. 10.4274/tnd.2022.00483 |
| MLA | Sener Hidayet,Gülmez Sevim Duygu,GULTEKIN MURAT,Simsir Gulsah,Başak Ayşe Nazlı Ophthalmic Features in SPA-8 with a Homozygous Missense Variant in the Homeobox Domain of the NKX6-2. , 2022, ss.57 - 58. 10.4274/tnd.2022.00483 |
| AMA | Sener H,Gülmez Sevim D,GULTEKIN M,Simsir G,Başak A Ophthalmic Features in SPA-8 with a Homozygous Missense Variant in the Homeobox Domain of the NKX6-2. . 2022; 57 - 58. 10.4274/tnd.2022.00483 |
| Vancouver | Sener H,Gülmez Sevim D,GULTEKIN M,Simsir G,Başak A Ophthalmic Features in SPA-8 with a Homozygous Missense Variant in the Homeobox Domain of the NKX6-2. . 2022; 57 - 58. 10.4274/tnd.2022.00483 |
| IEEE | Sener H,Gülmez Sevim D,GULTEKIN M,Simsir G,Başak A "Ophthalmic Features in SPA-8 with a Homozygous Missense Variant in the Homeobox Domain of the NKX6-2." , ss.57 - 58, 2022. 10.4274/tnd.2022.00483 |
| ISNAD | Sener, Hidayet vd. "Ophthalmic Features in SPA-8 with a Homozygous Missense Variant in the Homeobox Domain of the NKX6-2". (2022), 57-58. https://doi.org/10.4274/tnd.2022.00483 |
| APA | Sener H, Gülmez Sevim D, GULTEKIN M, Simsir G, Başak A (2022). Ophthalmic Features in SPA-8 with a Homozygous Missense Variant in the Homeobox Domain of the NKX6-2. Türk Nöroloji Dergisi, 28(1), 57 - 58. 10.4274/tnd.2022.00483 |
| Chicago | Sener Hidayet,Gülmez Sevim Duygu,GULTEKIN MURAT,Simsir Gulsah,Başak Ayşe Nazlı Ophthalmic Features in SPA-8 with a Homozygous Missense Variant in the Homeobox Domain of the NKX6-2. Türk Nöroloji Dergisi 28, no.1 (2022): 57 - 58. 10.4274/tnd.2022.00483 |
| MLA | Sener Hidayet,Gülmez Sevim Duygu,GULTEKIN MURAT,Simsir Gulsah,Başak Ayşe Nazlı Ophthalmic Features in SPA-8 with a Homozygous Missense Variant in the Homeobox Domain of the NKX6-2. Türk Nöroloji Dergisi, vol.28, no.1, 2022, ss.57 - 58. 10.4274/tnd.2022.00483 |
| AMA | Sener H,Gülmez Sevim D,GULTEKIN M,Simsir G,Başak A Ophthalmic Features in SPA-8 with a Homozygous Missense Variant in the Homeobox Domain of the NKX6-2. Türk Nöroloji Dergisi. 2022; 28(1): 57 - 58. 10.4274/tnd.2022.00483 |
| Vancouver | Sener H,Gülmez Sevim D,GULTEKIN M,Simsir G,Başak A Ophthalmic Features in SPA-8 with a Homozygous Missense Variant in the Homeobox Domain of the NKX6-2. Türk Nöroloji Dergisi. 2022; 28(1): 57 - 58. 10.4274/tnd.2022.00483 |
| IEEE | Sener H,Gülmez Sevim D,GULTEKIN M,Simsir G,Başak A "Ophthalmic Features in SPA-8 with a Homozygous Missense Variant in the Homeobox Domain of the NKX6-2." Türk Nöroloji Dergisi, 28, ss.57 - 58, 2022. 10.4274/tnd.2022.00483 |
| ISNAD | Sener, Hidayet vd. "Ophthalmic Features in SPA-8 with a Homozygous Missense Variant in the Homeobox Domain of the NKX6-2". Türk Nöroloji Dergisi 28/1 (2022), 57-58. https://doi.org/10.4274/tnd.2022.00483 |
