Yıl: 2023 Cilt: 29 Sayı: 1 Sayfa Aralığı: 74 - 76 Metin Dili: İngilizce DOI: 10.4274/tnd.2022.04641 İndeks Tarihi: 30-05-2023

Ophthalmic Features of a Rare Case of Costeff Syndrome

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Anahtar Kelime:

Costeff Sendromlu Nadir Bir Olgunun Oftalmik Özellikleri

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Anahtar Kelime:

Belge Türü: Makale Makale Türü: Diğer Erişim Türü: Erişime Açık
  • 1. Elpeleg ON, Costeff H, Joseph A, et al. 3-methylglutaconic aciduria in the Iraqi-Jewish ‘optic atrophy plus’ (Costeff) syndrome. Dev Med Child Neurol 1994;36:167-172.
  • 2. Anikster Y. Costeff syndrome synonyms: 3-methylglutaconic aciduria type 3, OPA3 defect. https://www.ncbi.nlm.nih.gov/books/NBK1473/ 3. Anikster Y, Kleta R, Shaag A, Gahl WA, Elpeleg O. Type III
  • 3-methylglutaconic aciduria (optic atrophy plus syndrome, or Costeff optic atrophy syndrome): identification of the OPA3 gene and its founder mutation in Iraqi Jews. Am J Hum Genet 2001;69:1218-1224.
  • 4. Pei W, Kratz LE, Bernardini I, et al. A model of Costeff syndrome reveals metabolic and protective functions of mitochondrial OPA3. Development 2010;137:2587-2596.
  • 5. Carelli V, La Morgia C, Valentino ML, et al. Retinal ganglion cell neurodegeneration in mitochondrial inherited disorders. Biochim Biophys Acta 2009;1787:518-528.
  • 6. Anikster Y, Kleta R, Shaag A, Gahl WA, Elpeleg O. Type III 3-methylglutaconic aciduria (optic atrophy plus syndrome, or Costeff optic atrophy syndrome): identification of the OPA3 gene and its founder mutation in Iraqi Jews. Am J Hum Genet 2001;69:1218-1224.
  • 7. Nystuen A, Costeff H, Elpeleg ON, et al. Iraqi-Jewish kindreds with optic atrophy plus (3-methylglutaconic aciduria type 3) demonstrate linkage disequilibrium with the CTG repeat in the 3’ untranslated region of the myotonic dystrophy protein kinase gene. Hum Mol Genet 1997;6:563-569.
  • 8. Huna-Baron R, Yahalom G, Anikster Y, et al. Neuro-ophthalmic phenotype of OPA3. J Neuroophthalmol 2022;42:147-152.
APA Temizyürek Ö, unlu m, Sener H, GULTEKIN M (2023). Ophthalmic Features of a Rare Case of Costeff Syndrome. , 74 - 76. 10.4274/tnd.2022.04641
Chicago Temizyürek Özge,unlu metin,Sener Hidayet,GULTEKIN MURAT Ophthalmic Features of a Rare Case of Costeff Syndrome. (2023): 74 - 76. 10.4274/tnd.2022.04641
MLA Temizyürek Özge,unlu metin,Sener Hidayet,GULTEKIN MURAT Ophthalmic Features of a Rare Case of Costeff Syndrome. , 2023, ss.74 - 76. 10.4274/tnd.2022.04641
AMA Temizyürek Ö,unlu m,Sener H,GULTEKIN M Ophthalmic Features of a Rare Case of Costeff Syndrome. . 2023; 74 - 76. 10.4274/tnd.2022.04641
Vancouver Temizyürek Ö,unlu m,Sener H,GULTEKIN M Ophthalmic Features of a Rare Case of Costeff Syndrome. . 2023; 74 - 76. 10.4274/tnd.2022.04641
IEEE Temizyürek Ö,unlu m,Sener H,GULTEKIN M "Ophthalmic Features of a Rare Case of Costeff Syndrome." , ss.74 - 76, 2023. 10.4274/tnd.2022.04641
ISNAD Temizyürek, Özge vd. "Ophthalmic Features of a Rare Case of Costeff Syndrome". (2023), 74-76. https://doi.org/10.4274/tnd.2022.04641
APA Temizyürek Ö, unlu m, Sener H, GULTEKIN M (2023). Ophthalmic Features of a Rare Case of Costeff Syndrome. Türk Nöroloji Dergisi, 29(1), 74 - 76. 10.4274/tnd.2022.04641
Chicago Temizyürek Özge,unlu metin,Sener Hidayet,GULTEKIN MURAT Ophthalmic Features of a Rare Case of Costeff Syndrome. Türk Nöroloji Dergisi 29, no.1 (2023): 74 - 76. 10.4274/tnd.2022.04641
MLA Temizyürek Özge,unlu metin,Sener Hidayet,GULTEKIN MURAT Ophthalmic Features of a Rare Case of Costeff Syndrome. Türk Nöroloji Dergisi, vol.29, no.1, 2023, ss.74 - 76. 10.4274/tnd.2022.04641
AMA Temizyürek Ö,unlu m,Sener H,GULTEKIN M Ophthalmic Features of a Rare Case of Costeff Syndrome. Türk Nöroloji Dergisi. 2023; 29(1): 74 - 76. 10.4274/tnd.2022.04641
Vancouver Temizyürek Ö,unlu m,Sener H,GULTEKIN M Ophthalmic Features of a Rare Case of Costeff Syndrome. Türk Nöroloji Dergisi. 2023; 29(1): 74 - 76. 10.4274/tnd.2022.04641
IEEE Temizyürek Ö,unlu m,Sener H,GULTEKIN M "Ophthalmic Features of a Rare Case of Costeff Syndrome." Türk Nöroloji Dergisi, 29, ss.74 - 76, 2023. 10.4274/tnd.2022.04641
ISNAD Temizyürek, Özge vd. "Ophthalmic Features of a Rare Case of Costeff Syndrome". Türk Nöroloji Dergisi 29/1 (2023), 74-76. https://doi.org/10.4274/tnd.2022.04641