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16225923,18436841,18235024,20725840,10655056,19139342,17070587,15459973,17601449,23499059,21211845,15051206,27522502,25079116,18400204,9331262,19797231,9804150,20220053,12963616,17266784,16961972,15953638,15453866,15712225,19578027,22711506,25703721,10393063,15629837,15735604,16005871,23604511,18055789,15229190,15277507,23290749,27732723,15722315,20079539,15531334,20537394,16754206,19818506,19111905,25663266,20164460,22504327,17724214,20702822,19718767,16384943,18294254,19273793,19376587,19172503,19952985,10440267,12552256,15531314,10937591,12601058,20375334,17962469,17631851,16272056,16936081,30285900,22405330,15465555,20371244,23374571,16020309,11135490,16650474,25982971,16637847,17065520,16272055,15914600,17320181,16505054,15234147,28442884,17591900,21897746,11053295,27033713,15808248,10916181,23929416,9532531,15953640,17438525,19074807,18655459,17065522,16723373,23767994,21364904,15665353,10427103,10845615,12407160,15851576,18653602,10509678,16565402,23989059,29971438,24891813,22466470,17652762,22551329,22559933,20171741,22217031,24345323,18704120,23289492,28384671,11786058,17325176,16650681,21558291,26716959,17896311,16038651,1821435,23143909,22551409,16714263,29071374,9888420,25766589,26771239,25684977,21911584,22633354,24652164,26298565,15689355,7849422,18547563,18835469,21071739,30684641,17962389,23453514,25789692,77352,25616768,29385733,19093009,15288992,16088246,1513061,19344825,21268679,12789573,24246574,15860307,23039133,15094734,15793783,11773633,12037007,22199244,21757580,18599565,25908487,22110067,22182799,15161866,2335450,25113443,15953459,15289145,15790919,23263253,30466340,21467170,12623820,30372751,17402561,26720466,21447990,16868010,16082559,25227500,19038374,21900228,15302662,25708979,22194652,15465556,25692141,19243827,23139274,32048102,19429590,15190009,22669287,34229535,32679203,7643484,26333019,15069569,31043363,30614359,30324420,15162299,14962443,34561487,17724221,15636262,11694879,15389263,15790869,30578501,15980254,23233793,31096954,20212206,25007332,27040408,15059710,26138751,23044944,30701423,18294621,16088326,15623792,9071226,16110338,16214101,31375969,24945461,20337322,15162285,10857830,15634773,21813656,26165328,313711,10617778,30347075,15505030,11581222,11487564,15591106,12094320,19006237,21077756,22940089,22807297,16019685,10333111,11006213,22998501,33342761,31927556,15579991,18195218,28542676,26393467,20069340,10393054,25665791,30900587,8554074,29074494,15197065,15671307,28541266,24425859,11448328,18554571,20574029,15111605,12153800,25170858,15051220,17525851,26258614,32815098,31997113,29691705,26678272,33611760,22807301,17962476,17698759,17564971,11449319,21803923,31306293,15184964,18728755,30445045,22466457,28885867,34259982,18286335,1794782,26849243,15579994,31117170,15043546,28355663,26261413,15175914,21529959,26878455,25545482,27718025,15037118,20141356,33138239,19823680,11569187,27820952,29196766,18332321,25926518,31136651,14991316,22964989,15980212,23686677,32941856,16167297,11931802,30959774,9445217,24512365,15235574,23229695,11786056,11150264,28993665,20829743,24564716,33819700,21417677,30222024,21834622,10571347,29947801,27245454,22610143,27447086,22290069,15823919,25074776,29666954,24557352,24811962,19898638,11135496,33007388,19379737,15488808,31292819,18997096,30588538,1464972,15258582,15518223,35477418,12126946,13130265,15234312,26396487,16518657,24169099,2012146,29634382,31135245,11142745,19757352,36140584,5150321,14691190,12819982,553699,20099228,32881472,29370033,27623337,16332268,23096145,11320818,3498065,26658511,15557429,24480840,16024868,9492941,30451557,15629309,12022013,27374844,20417226,10580668,22584882,21174530,19401883,27259167,32150116,36007168,16167295,30516820,2554733,10463423,25390083,34807235,15785977,9059268,24001013,27327288,34445325,11952493,10982039,32931575,26349155,11594966,21873662,29603933,8962870,25605338,19882934,19546015,16186368,21728811,29210963,33180210,32722798,34287097,27632587,12912687,19340470,32458067,21319138,23822599,11462159,19850834,10947001,31900015,26154701,16101944,33748123,35861669,28379567,33513943,21412020,24557353,15642808,28510626,15692892,15590547,16120155,16023329,15913586,36067420,25820994,30195891,15682917,28481129,14566650,24063160,36837600,18487367,15059731,8887397,26331342,21158358,16029280,19223988,33934732,30710256,10972948,3428076,34037952,10083738,20590364,11879143,14744904,34822027,19852574,958662,29016529,35256656,30073356,15342228,27573156,24498227,25391052,10636429,20087419,14767656,24069298,4548148,15944839,26304472,19940031,31083481,28195981,36913617,27106100,17962988,12557027,32567010,26029869,12055472,32541437,27627638,26560832,32467484,8977001,953201,30426193,22183383,33163596,33135089,3827713,15953465,651216,28798898,5402420,28173158,10888918,3956358,11292414,15922406,17322467,32855884,22565643,17671952,29947570,35508617,30850196,10580723,25390985,4794430,1531728,25391051,36872573,7138347,35400991,15014962,8570153,5449911,33553842,30538830,2618629,23098562,16502306,8926650,28338564,15176385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Novel NR2E3 mutations (R104Q, R334G) associated with a mild form of enhanced S-cone syndrome demonstrate compound heterozygosity.

Hayashi T, Gekka T, Goto-Omoto S, Takeuchi T, Kubo A, Kitahara K. Hayashi T, et al. Ophthalmology. 2005 Dec;112(12):2115. doi: 10.1016/j.ophtha.2005.07.002. Epub 2005 Oct 12. Ophthalmology. 2005. PMID: 16225923

Phenotypic variation in enhanced S-cone syndrome.

Audo I, Michaelides M, Robson AG, Hawlina M, Vaclavik V, Sandbach JM, Neveu MM, Hogg CR, Hunt DM, Moore AT, Bird AC, Webster AR, Holder GE. Audo I, et al. Invest Ophthalmol Vis Sci. 2008 May;49(5):2082-93. doi: 10.1167/iovs.05-1629. Invest Ophthalmol Vis Sci. 2008. PMID: 18436841

Cone dystrophy with supernormal rod response is strictly associated with mutations in KCNV2.

Wissinger B, Dangel S, Jägle H, Hansen L, Baumann B, Rudolph G, Wolf C, Bonin M, Koeppen K, Ladewig T, Kohl S, Zrenner E, Rosenberg T. Wissinger B, et al. Invest Ophthalmol Vis Sci. 2008 Feb;49(2):751-7. doi: 10.1167/iovs.07-0471. Invest Ophthalmol Vis Sci. 2008. PMID: 18235024

A novel mutation (Cys83Tyr) in the second zinc finger of NR2E3 in enhanced S-cone syndrome.

Rocha-Sousa A, Hayashi T, Gomes NL, Penas S, Brandão E, Rocha P, Urashima M, Yamada H, Tsuneoka H, Falcão-Reis F. Rocha-Sousa A, et al. Graefes Arch Clin Exp Ophthalmol. 2011 Feb;249(2):201-8. doi: 10.1007/s00417-010-1482-y. Epub 2010 Aug 20. Graefes Arch Clin Exp Ophthalmol. 2011. PMID: 20725840

Mutation of a nuclear receptor gene, NR2E3, causes enhanced S cone syndrome, a disorder of retinal cell fate.

Haider NB, Jacobson SG, Cideciyan AV, Swiderski R, Streb LM, Searby C, Beck G, Hockey R, Hanna DB, Gorman S, Duhl D, Carmi R, Bennett J, Weleber RG, Fishman GA, Wright AF, Stone EM, Sheffield VC. Haider NB, et al. Nat Genet. 2000 Feb;24(2):127-31. doi: 10.1038/72777. Nat Genet. 2000. PMID: 10655056

Phenotypic features of patients with NR2E3 mutations.

Pachydaki SI, Klaver CC, Barbazetto IA, Roy MS, Gouras P, Allikmets R, Yannuzzi LA. Pachydaki SI, et al. Arch Ophthalmol. 2009 Jan;127(1):71-5. doi: 10.1001/archophthalmol.2008.534. Arch Ophthalmol. 2009. PMID: 19139342

A novel homozygous GRK1 mutation (P391H) in 2 siblings with Oguchi disease with markedly reduced cone responses.

Hayashi T, Gekka T, Takeuchi T, Goto-Omoto S, Kitahara K. Hayashi T, et al. Ophthalmology. 2007 Jan;114(1):134-41. doi: 10.1016/j.ophtha.2006.05.069. Epub 2006 Oct 27. Ophthalmology. 2007. PMID: 17070587

Mutation analysis of NR2E3 and NRL genes in Enhanced S Cone Syndrome.

Wright AF, Reddick AC, Schwartz SB, Ferguson JS, Aleman TS, Kellner U, Jurklies B, Schuster A, Zrenner E, Wissinger B, Lennon A, Shu X, Cideciyan AV, Stone EM, Jacobson SG, Swaroop A. Wright AF, et al. Hum Mutat. 2004 Nov;24(5):439. doi: 10.1002/humu.9285. Hum Mutat. 2004. PMID: 15459973

Atypical mild enhanced S-cone syndrome with novel compound heterozygosity of the NR2E3 gene.

Lam BL, Goldberg JL, Hartley KL, Stone EM, Liu M. Lam BL, et al. Am J Ophthalmol. 2007 Jul;144(1):157-9. doi: 10.1016/j.ajo.2007.03.012. Am J Ophthalmol. 2007. PMID: 17601449

Maternal uniparental isodisomy of chromosome 6 reveals a TULP1 mutation as a novel cause of cone dysfunction.

Roosing S, van den Born LI, Hoyng CB, Thiadens AA, de Baere E, Collin RW, Koenekoop RK, Leroy BP, van Moll-Ramirez N, Venselaar H, Riemslag FC, Cremers FP, Klaver CC, den Hollander AI. Roosing S, et al. Ophthalmology. 2013 Jun;120(6):1239-46. doi: 10.1016/j.ophtha.2012.12.005. Epub 2013 Mar 15. Ophthalmology. 2013. PMID: 23499059

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