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• A Korean family with an early-onset autosomal dominant macular dystrophy resembling North Carolina macular dystrophy.

  Kim SJ, Woo SJ, Yu HG. Kim SJ, et al. Korean J Ophthalmol. 2006 Dec;20(4):220-4. doi: 10.3341/kjo.2006.20.4.220. Korean J Ophthalmol. 2006. PMID: 17302207 Free PMC article.
• Letter to the Editor Regarding: "Modern diagnostic and therapeutic approaches in familial maculopathy with reference to North Carolina macular dystrophy" by Jana Nekolova et al.

  Small KW. Small KW. Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub. 2023 Mar;167(1):95-97. doi: 10.5507/bp.2023.003. Epub 2023 Jan 17. Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub. 2023. PMID: 36691765 No abstract available.
• A unique PRDM13-associated variant in a Georgian Jewish family with probable North Carolina macular dystrophy and the possible contribution of a unique CFH variant.

  Namburi P, Khateb S, Meyer S, Bentovim T, Ratnapriya R, Khramushin A, Swaroop A, Schueler-Furman O, Banin E, Sharon D. Namburi P, et al. Mol Vis. 2020 Apr 16;26:299-310. eCollection 2020. Mol Vis. 2020. PMID: 32476814 Free PMC article.
• Towards Uncovering the Role of Incomplete Penetrance in Maculopathies through Sequencing of 105 Disease-Associated Genes.

  Hitti-Malin RJ, Panneman DM, Corradi Z, Boonen EGM, Astuti G, Dhaenens CM, Stöhr H, Weber BHF, Sharon D, Banin E, Karali M, Banfi S, Ben-Yosef T, Glavač D, Farrar GJ, Ayuso C, Liskova P, Dudakova L, Vajter M, Ołdak M, Szaflik JP, Matynia A, Gorin MB, Kämpjärvi K, Bauwens M, De Baere E, Hoyng CB, Li CHZ, Klaver CCW, Inglehearn CF, Fujinami K, Rivolta C, Allikmets R, Zernant J, Lee W, Podhajcer OL, Fakin A, Sajovic J, AlTalbishi A, Valeina S, Taurina G, Vincent AL, Roberts L, Ramesar R, Sartor G, Luppi E, Downes SM, van den Born LI, McLaren TL, De Roach JN, Lamey TM, Thompson JA, Chen FK, Tracewska AM, Kamakari S, Sallum JMF, Bolz HJ, Kayserili H, Roosing S, Cremers FPM. Hitti-Malin RJ, et al. Biomolecules. 2024 Mar 19;14(3):367. doi: 10.3390/biom14030367. Biomolecules. 2024. PMID: 38540785 Free PMC article.
• Clinical characterization and genetic mapping of North Carolina macular dystrophy.

  Yang Z, Tong Z, Chorich LJ, Pearson E, Yang X, Moore A, Hunt DM, Zhang K. Yang Z, et al. Vision Res. 2008 Feb;48(3):470-7. doi: 10.1016/j.visres.2007.09.015. Epub 2007 Oct 31. Vision Res. 2008. PMID: 17976682 Free PMC article.