References
- Casalino G, Khan KN, Armengol M, Wright G, Pontikos N, Georgiou M, Webster AR, Robson AG, Grewal PS, Michaelides M. Autosomal recessive bestrophinopathy: clinical features, natural history, and genetic findings in preparation for clinical trials. Ophthalmology. 2021 May;128(5):706–18. doi:10.1016/j.ophtha.2020.10.006. Epub 2020 Oct 8. PMID: 33039401; PMCID: PMC8062850.
- Bremond-Gignac D, Daruich A, Gallet M, Menoud PA, Nowomiejska K, Rejdak R, Behar-Cohen F, Benkhalifa M, Copin H. Central retinal vein occlusion in otherwise healthy children and adolescents: association with multigenetic variants of thrombophilia. Retina. 2020 Jul;40(7):1339–43. doi:10.1097/IAE.0000000000002563. PMID: 31095065.
- Lupi-Herrera E, Soto-López ME, Lugo-Dimas AJ, Núñez-Martínez ME, Gamboa R, Huesca-Gómez C, Sierra-Galán LM, Guarner-Lans V. Polymorphisms C677T and A1298C of MTHFR gene: homocysteine levels and prothrombotic biomarkers in coronary and pulmonary thromboembolic disease. Clin Appl Thromb Hemost. 2019 Jan-Dec;25:1076029618780344. Epub 2018 Jun 19. PMID: 29916259; PMCID: PMC6714945. doi:10.1177/1076029618780344.
- Petrone I, Bernardo PS, Dos Santos EC, Abdelhay E. MTHFR C677T and A1298C polymorphisms in breast cancer, gliomas and gastric cancer: a review. Genes (Basel). 2021 Apr 17;12(4):587. doi:10.3390/genes12040587. PMID: 33920562; PMCID: PMC8073588.
- Liu F, Silva D, Malone MV, Seetharaman K. MTHFR A1298C and C677T polymorphisms are associated with increased risk of venous thromboembolism: a retrospective chart review study. Acta Haematol. 2017;138(4):208–15. doi:10.1159/000480447. Epub 2017 Dec 7. PMID: 29212064.
- Erol M, Gayret OB, Yigit O, Serefoglu Cabuk K, Toksoz M, Tiras M. A case of homocystinuria misdiagnosed as moyamoya disease: a case report. Iran Red Crescent Med J. 2016 Mar 9;18(4):e30332. doi:10.5812/ircmj.30332. PMID: 27330833; PMCID: PMC4912698.
- Lee CS, Jun I, Choi SI, Lee JH, Lee MG, Lee SC, Kim EK. A novel BEST1 mutation in autosomal recessive bestrophinopathy. Invest Ophthalmol Vis Sci. 2015 Dec;56(13):8141–50. doi:10.1167/iovs.15-18168. PMID: 26720466.
- Giancotta C, Sanseviero M, Talarico V, La Rosa MA, Galati MC, Raiola G, Miniero R. Retinal vein occlusion in child with rare mutations in genes for thrombophilia. Clin Ter. 2019 May-Jun;170(3):e163–e167. doi:10.7417/CT.2019.2126. PMID: 31173043.
- Weisberg IS, Jacques PF, Selhub J, Bostom AG, Chen Z, Curtis Ellison R, Eckfeldt JH, Rozen R. The 1298A–>C polymorphism in methylenetetrahydrofolate reductase (MTHFR): in vitro expression and association with homocysteine. Atherosclerosis. 2001 Jun;156(2):409–15. doi:10.1016/s0021-9150(00)00671-7. PMID: 11395038.
- Couser NL, McClure J, Evans MW, Haines NR, Burden SK, Muenzer J. Homocysteinemia due to MTHFR deficiency in a young adult presenting with bilateral lens subluxations. Ophthalmic Genet. 2017 Jan-Feb;38(1):91–94. doi:10.3109/13816810.2016.1143017. Epub 2016 Apr 4. PMID: 27046515.