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9. Harboyan syndrome with biallelic SLC4A11 pathogenic variants misdiagnosed as congenital CMV infection. Loveridge-Easther C; Kiray G; Hull S; Vincent AL Ophthalmic Genet; 2022 Oct; 43(5):685-688. PubMed ID: 35672901 [TBL] [Abstract][Full Text] [Related]
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12. Congenital hereditary endothelial dystrophy with progressive sensorineural deafness: a case report of Harboyan syndrome. Karataş E; Utine CA Arq Bras Oftalmol; 2024; 88(2):e20230078. PubMed ID: 39319907 [TBL] [Abstract][Full Text] [Related]
13. Borate transporter SLC4A11 mutations cause both Harboyan syndrome and non-syndromic corneal endothelial dystrophy. Desir J; Moya G; Reish O; Van Regemorter N; Deconinck H; David KL; Meire FM; Abramowicz MJ J Med Genet; 2007 May; 44(5):322-6. PubMed ID: 17220209 [TBL] [Abstract][Full Text] [Related]
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15. SLC4A11 and the Pathophysiology of Congenital Hereditary Endothelial Dystrophy. Patel SP; Parker MD Biomed Res Int; 2015; 2015():475392. PubMed ID: 26451371 [TBL] [Abstract][Full Text] [Related]
16. Delayed onset of congenital hereditary endothelial dystrophy due to compound heterozygous SLC4A11 mutations. Kumawat BL; Gupta R; Sharma A; Sen S; Gupta S; Tandon R Indian J Ophthalmol; 2016 Jul; 64(7):492-5. PubMed ID: 27609159 [TBL] [Abstract][Full Text] [Related]
17. IPSC-Derived Corneal Endothelial-like Cells Act as an Appropriate Model System to Assess the Impact of SLC4A11 Variants on Pre-mRNA Splicing. Brejchova K; Dudakova L; Skalicka P; Dobrovolny R; Masek P; Putzova M; Moosajee M; Tuft SJ; Davidson AE; Liskova P Invest Ophthalmol Vis Sci; 2019 Jul; 60(8):3084-3090. PubMed ID: 31323090 [TBL] [Abstract][Full Text] [Related]
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19. Congenital hereditary endothelial dystrophy - mutation analysis of SLC4A11 and genotype-phenotype correlation in a North Indian patient cohort. Paliwal P; Sharma A; Tandon R; Sharma N; Titiyal JS; Sen S; Nag TC; Vajpayee RB Mol Vis; 2010 Dec; 16():2955-63. PubMed ID: 21203343 [TBL] [Abstract][Full Text] [Related]
20. Fuchs Endothelial Corneal Dystrophy in a Heterozygous Carrier of Congenital Hereditary Endothelial Dystrophy Type 2 with a Novel Mutation in SLC4A11. Kim JH; Ko JM; Tchah H Ophthalmic Genet; 2015; 36(3):284-6. PubMed ID: 24502824 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]