{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,20]],"date-time":"2026-09-20T22:25:18Z","timestamp":1789943118066,"version":"4.0.1"},"reference-count":52,"publisher":"Springer Science and Business Media LLC","issue":"12","license":[{"start":{"date-parts":[[2011,6,8]],"date-time":"2011-06-08T00:00:00Z","timestamp":1307491200000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Eur J Hum Genet"],"published-print":{"date-parts":[[2011,12]]},"DOI":"10.1038\/ejhg.2011.102","type":"journal-article","created":{"date-parts":[[2011,6,8]],"date-time":"2011-06-08T13:30:44Z","timestamp":1307539844000},"page":"1207-1212","source":"Crossref","is-referenced-by-count":96,"title":["Renal coloboma syndrome"],"prefix":"10.1038","volume":"19","author":[{"given":"Lisa A","family":"Schimmenti","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2011,6,8]]},"reference":[{"key":"BFejhg2011102_CR1","doi-asserted-by":"publisher","first-page":"597","DOI":"10.1002\/ajmg.1320290318","volume":"29","author":"RG Weaver","year":"1988","unstructured":"Weaver RG, Cashwell LF, Lorentz W, Whiteman D, Geisinger KR, Ball M : Optic nerve coloboma associated with renal disease. Am J Med Genet 1988; 29: 597\u2013605.","journal-title":"Am J Med Genet"},{"key":"BFejhg2011102_CR2","doi-asserted-by":"publisher","first-page":"358","DOI":"10.1038\/ng0495-358","volume":"9","author":"P Sanyanusin","year":"1995","unstructured":"Sanyanusin P, Schimmenti LA, McNoe LA et al: Mutation of the PAX2 gene in a family with optic nerve colobomas, renal anomalies and vesicoureteral reflux. Nat Genet 1995; 9: 358\u2013364.","journal-title":"Nat Genet"},{"key":"BFejhg2011102_CR3","doi-asserted-by":"publisher","first-page":"204","DOI":"10.1002\/ajmg.1320590217","volume":"59","author":"LA Schimmenti","year":"1995","unstructured":"Schimmenti LA, Pierpont ME, Carpenter BL, Kashtan CE, Johnson MR, Dobyns WB : Autosomal dominant optic nerve colobomas, vesicoureteral reflux, and renal anomalies. Am J Med Genet 1995; 59: 204\u2013208.","journal-title":"Am J Med Genet"},{"key":"BFejhg2011102_CR4","doi-asserted-by":"publisher","first-page":"2183","DOI":"10.1093\/hmg\/4.11.2183","volume":"4","author":"P Sanyanusin","year":"1995","unstructured":"Sanyanusin P, McNoe LA, Sullivan MJ, Weaver RG, Eccles MR : Mutation of PAX2 in two siblings with renal-coloboma syndrome. Hum Mol Genet 1995; 4: 2183\u20132184.","journal-title":"Hum Mol Genet"},{"key":"BFejhg2011102_CR5","doi-asserted-by":"publisher","first-page":"910","DOI":"10.1016\/S0002-9394(01)01231-4","volume":"132","author":"GW Chung","year":"2001","unstructured":"Chung GW, Edwards AO, Schimmenti LA, Manligas GS, Zhang YH, Ritter III R : Renal-coloboma syndrome: report of a novel PAX2 gene mutation. Am J Ophthalmol 2001; 132: 910\u2013914.","journal-title":"Am J Ophthalmol"},{"key":"BFejhg2011102_CR6","doi-asserted-by":"publisher","first-page":"738","DOI":"10.1016\/S0161-6420(00)00661-8","volume":"108","author":"CF Parsa","year":"2001","unstructured":"Parsa CF, Silva ED, Sundin OH et al: Redefining papillorenal syndrome: an underdiagnosed cause of ocular and renal morbidity. Ophthalmology 2001; 108: 738\u2013749.","journal-title":"Ophthalmology"},{"key":"BFejhg2011102_CR7","doi-asserted-by":"publisher","first-page":"197","DOI":"10.1016\/0925-4773(92)90053-M","volume":"38","author":"AW Puschel","year":"1992","unstructured":"Puschel AW, Westerfield M, Dressler GR : Comparative analysis of Pax-2 protein distributions during neurulation in mice and zebrafish. Mech Dev 1992; 38: 197\u2013208.","journal-title":"Mech Dev"},{"key":"BFejhg2011102_CR8","doi-asserted-by":"crossref","first-page":"797","DOI":"10.1242\/dev.109.4.797","volume":"109","author":"HO Nornes","year":"1990","unstructured":"Nornes HO, Dressler GR, Knapik EW, Deutsch U, Gruss P : Spatially and temporally restricted expression of Pax2 during murine neurogenesis. Development 1990; 109: 797\u2013809.","journal-title":"Development"},{"key":"BFejhg2011102_CR9","doi-asserted-by":"publisher","first-page":"135","DOI":"10.1586\/eop.09.3","volume":"4","author":"LA Schimmenti","year":"2009","unstructured":"Schimmenti LA : Genetic and developmental basis of renal coloboma (papillorenal) syndrome. Expert Rev Ophthalmol 2009; 4: 135\u2013144.","journal-title":"Expert Rev Ophthalmol"},{"key":"BFejhg2011102_CR10","first-page":"701","volume":"42","author":"J Terzic","year":"1998","unstructured":"Terzic J, Muller C, Gajovic S, Saraga-Babic M : Expression of PAX2 gene during human development. Int J Dev Biol 1998; 42: 701\u2013707.","journal-title":"Int J Dev Biol"},{"key":"BFejhg2011102_CR11","doi-asserted-by":"publisher","first-page":"85","DOI":"10.1002\/1096-8628(20000717)93:2<85::AID-AJMG1>3.0.CO;2-B","volume":"93","author":"AL Tellier","year":"2000","unstructured":"Tellier AL, Amiel J, Delezoide AL et al: Expression of the PAX2 gene in human embryos and exclusion in the CHARGE syndrome. Am J Med Genet 2000; 93: 85\u201388.","journal-title":"Am J Med Genet"},{"key":"BFejhg2011102_CR12","doi-asserted-by":"publisher","first-page":"191","DOI":"10.1076\/opge.24.4.191.17229","volume":"24","author":"LA Schimmenti","year":"2003","unstructured":"Schimmenti LA, Manligas GS, Sieving PA : Optic nerve dysplasia and renal insufficiency in a family with a novel PAX2 mutation, Arg115X: further ophthalmologic delineation of the renal-coloboma syndrome. Ophthalmic Genet 2003; 24: 191\u2013202.","journal-title":"Ophthalmic Genet"},{"key":"BFejhg2011102_CR13","first-page":"869","volume":"60","author":"LA Schimmenti","year":"1997","unstructured":"Schimmenti LA, Cunliffe HE, McNoe LA et al: Further delineation of renal-coloboma syndrome in patients with extreme variability of phenotype and identical PAX2 mutations. Am J Hum Genet 1997; 60: 869\u2013878.","journal-title":"Am J Hum Genet"},{"key":"BFejhg2011102_CR14","doi-asserted-by":"publisher","first-page":"369","DOI":"10.1002\/(SICI)1098-1004(199911)14:5<369::AID-HUMU2>3.0.CO;2-E","volume":"14","author":"LA Schimmenti","year":"1999","unstructured":"Schimmenti LA, Shim HH, Wirtschafter JD et al: Homonucleotide expansion and contraction mutations of PAX2 and inclusion of Chiari 1 malformation as part of renal-coloboma syndrome. Hum Mutat 1999; 14: 369\u2013376.","journal-title":"Hum Mutat"},{"key":"BFejhg2011102_CR15","doi-asserted-by":"publisher","first-page":"806","DOI":"10.1136\/jmg.35.10.806","volume":"35","author":"HE Cunliffe","year":"1998","unstructured":"Cunliffe HE, McNoe LA, Ward TA, Devriendt K, Brunner HG, Eccles MR : The prevalence of PAX2 mutations in patients with isolated colobomas or colobomas associated with urogenital anomalies. J Med Genet 1998; 35: 806\u2013812.","journal-title":"J Med Genet"},{"key":"BFejhg2011102_CR16","doi-asserted-by":"publisher","first-page":"203","DOI":"10.1016\/j.ajo.2004.07.021","volume":"139","author":"T Higashide","year":"2005","unstructured":"Higashide T, Wada T, Sakurai M, Yokoyama H, Sugiyama K : Macular abnormalities and optic disk anomaly associated with a new PAX2 missense mutation. Am J Ophthalmol 2005; 139: 203\u2013205.","journal-title":"Am J Ophthalmol"},{"key":"BFejhg2011102_CR17","doi-asserted-by":"publisher","first-page":"656","DOI":"10.1177\/112067210801800430","volume":"18","author":"S Samimi","year":"2008","unstructured":"Samimi S, Antignac C, Combe C, Lacombe D, Renaud Rougier MB, Korobelnik JF : Bilateral macular detachment caused by bilateral optic nerve malformation in a papillorenal syndrome due to a new PAX2 mutation. Eur J Ophthalmol 2008; 18: 656\u2013658.","journal-title":"Eur J Ophthalmol"},{"key":"BFejhg2011102_CR18","doi-asserted-by":"publisher","first-page":"137","DOI":"10.1002\/1096-8628(2000)9999:999<00::AID-AJMG1143>3.0.CO;2-F","volume":"99","author":"B Ford","year":"2001","unstructured":"Ford B, Rupps R, Lirenman D et al: Renal-coloboma syndrome: prenatal detection and clinical spectrum in a large family. Am J Med Genet 2001; 99: 137\u2013141.","journal-title":"Am J Med Genet"},{"key":"BFejhg2011102_CR19","doi-asserted-by":"publisher","first-page":"1293","DOI":"10.1038\/eye.2009.330","volume":"24","author":"F Beby","year":"2010","unstructured":"Beby F, Roche O, Cochat P et al: New ocular phenotype associated with a mutation in the PAX2 gene. Eye (Lond) 2010; 24: 1293\u20131294.","journal-title":"Eye (Lond)"},{"key":"BFejhg2011102_CR20","doi-asserted-by":"publisher","first-page":"820","DOI":"10.1038\/sj.ejhg.5200539","volume":"8","author":"J Amiel","year":"2000","unstructured":"Amiel J, Audollent S, Joly D et al: PAX2 mutations in renal-coloboma syndrome: mutational hotspot and germline mosaicism. Eur J Hum Genet 2000; 8: 820\u2013826.","journal-title":"Eur J Hum Genet"},{"key":"BFejhg2011102_CR21","doi-asserted-by":"publisher","first-page":"2864","DOI":"10.1681\/ASN.2006030277","volume":"17","author":"S Weber","year":"2006","unstructured":"Weber S, Moriniere V, Knuppel T et al: Prevalence of mutations in renal developmental genes in children with renal hypodysplasia: results of the ESCAPE study. J Am Soc Nephrol 2006; 17: 2864\u20132870.","journal-title":"J Am Soc Nephrol"},{"key":"BFejhg2011102_CR22","doi-asserted-by":"publisher","first-page":"2754","DOI":"10.1681\/ASN.2005030239","volume":"16","author":"J Fletcher","year":"2005","unstructured":"Fletcher J, Hu M, Berman Y et al: Multicystic dysplastic kidney and variable phenotype in a family with a novel deletion mutation of PAX2. J Am Soc Nephrol 2005; 16: 2754\u20132761.","journal-title":"J Am Soc Nephrol"},{"key":"BFejhg2011102_CR23","doi-asserted-by":"publisher","first-page":"457","DOI":"10.1046\/j.1523-1755.2001.059002457.x","volume":"59","author":"R Salomon","year":"2001","unstructured":"Salomon R, Tellier AL, Attie-Bitach T et al: PAX2 mutations in oligomeganephronia. Kidney Int 2001; 59: 457\u2013462.","journal-title":"Kidney Int"},{"key":"BFejhg2011102_CR24","doi-asserted-by":"publisher","first-page":"1","DOI":"10.5414\/CNP67001","volume":"67","author":"A Taranta","year":"2007","unstructured":"Taranta A, Palma A, De Luca V et al: Renal-coloboma syndrome: a single nucleotide deletion in the PAX2 gene at Exon 8 is associated with a highly variable phenotype. Clin Nephrol 2007; 67: 1\u20134.","journal-title":"Clin Nephrol"},{"key":"BFejhg2011102_CR25","doi-asserted-by":"crossref","first-page":"1769","DOI":"10.1681\/ASN.V1281769","volume":"12","author":"K Nishimoto","year":"2001","unstructured":"Nishimoto K, Iijima K, Shirakawa T et al: PAX2 gene mutation in a family with isolated renal hypoplasia. J Am Soc Nephrol 2001; 12: 1769\u20131772.","journal-title":"J Am Soc Nephrol"},{"key":"BFejhg2011102_CR26","doi-asserted-by":"crossref","unstructured":"Negrisolo S, Benetti E, Centi S et al: PAX2 gene mutations in pediatric and young adult transplant recipients: kidney and urinary tract malformations without ocular anomalies. Clin Genet 2010. doi:10.1111\/j.1399-0004.2010.01588.x (e-pub ahead of print 29 October 2010).","DOI":"10.1111\/j.1399-0004.2010.01588.x"},{"key":"BFejhg2011102_CR27","doi-asserted-by":"publisher","first-page":"830","DOI":"10.1002\/ajmg.a.33133","volume":"152A","author":"J Martinovic-Bouriel","year":"2010","unstructured":"Martinovic-Bouriel J, Benachi A, Bonniere M et al: PAX2 mutations in fetal renal hypodysplasia. Am J Med Genet A 2010; 152A: 830\u2013835.","journal-title":"Am J Med Genet A"},{"key":"BFejhg2011102_CR28","doi-asserted-by":"publisher","first-page":"94","DOI":"10.1159\/000321625","volume":"1","author":"M Tagami","year":"2010","unstructured":"Tagami M, Honda S, Morioka I, Matsuo M, Negi A : Bilateral optic disc anomalies associated with PAX2 mutation in a case of potter sequence. Case Report Ophthalmol 2010; 1: 94\u201398.","journal-title":"Case Report Ophthalmol"},{"key":"BFejhg2011102_CR29","doi-asserted-by":"crossref","first-page":"3381","DOI":"10.1242\/dev.122.11.3381","volume":"122","author":"M Torres","year":"1996","unstructured":"Torres M, Gomez-Pardo E, Gruss P : Pax2 contributes to inner ear patterning and optic nerve trajectory. Development 1996; 122: 3381\u20133391.","journal-title":"Development"},{"key":"BFejhg2011102_CR30","doi-asserted-by":"publisher","first-page":"497","DOI":"10.5414\/CNP72497","volume":"72","author":"T Miyazawa","year":"2009","unstructured":"Miyazawa T, Nakano M, Takemura Y et al: A case of renal-coloboma syndrome associated with mental developmental delay exhibiting a novel PAX2 gene mutation. Clin Nephrol 2009; 72: 497\u2013500.","journal-title":"Clin Nephrol"},{"key":"BFejhg2011102_CR31","doi-asserted-by":"publisher","first-page":"1912","DOI":"10.1016\/S0161-6420(01)00722-9","volume":"108","author":"P Dureau","year":"2001","unstructured":"Dureau P, Attie-Bitach T, Salomon R et al: Renal coloboma syndrome. Ophthalmology 2001; 108: 1912\u20131916.","journal-title":"Ophthalmology"},{"key":"BFejhg2011102_CR32","doi-asserted-by":"publisher","first-page":"223","DOI":"10.1016\/S0022-3476(81)80454-4","volume":"99","author":"RA Pagon","year":"1981","unstructured":"Pagon RA, Graham Jr JM, Zonana J, Yong SL : Coloboma, congenital heart disease, and choanal atresia with multiple anomalies: CHARGE association. J Pediatr 1981; 99: 223\u2013227.","journal-title":"J Pediatr"},{"key":"BFejhg2011102_CR33","first-page":"291","volume":"10","author":"P Sikora","year":"2001","unstructured":"Sikora P, Zajaczkowska M, Katska E, Niedzielska G : [A nineteen year observation of a boy with branchio-oto-renal syndrome and chronic renal failure]. Pol Merkur Lekarski 2001; 10: 291\u2013293.","journal-title":"Pol Merkur Lekarski"},{"key":"BFejhg2011102_CR34","doi-asserted-by":"publisher","first-page":"2033","DOI":"10.1097\/01.ASN.0000078808.70309.C4","volume":"14","author":"S Bohn","year":"2003","unstructured":"Bohn S, Thomas H, Turan G et al: Distinct molecular and morphogenetic properties of mutations in the human HNF1beta gene that lead to defective kidney development. J Am Soc Nephrol 2003; 14: 2033\u20132041.","journal-title":"J Am Soc Nephrol"},{"key":"BFejhg2011102_CR35","doi-asserted-by":"publisher","first-page":"1565","DOI":"10.1086\/375555","volume":"72","author":"N Azuma","year":"2003","unstructured":"Azuma N, Yamaguchi Y, Handa H et al: Mutations of the PAX6 gene detected in patients with a variety of optic-nerve malformations. Am J Hum Genet 2003; 72: 1565\u20131570.","journal-title":"Am J Hum Genet"},{"key":"BFejhg2011102_CR36","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1034\/j.1399-0004.1999.560101.x","volume":"56","author":"MR Eccles","year":"1999","unstructured":"Eccles MR, Schimmenti LA : Renal-coloboma syndrome: a multi-system developmental disorder caused by PAX2 mutations. Clin Genet 1999; 56: 1\u20139.","journal-title":"Clin Genet"},{"key":"BFejhg2011102_CR37","doi-asserted-by":"publisher","first-page":"149","DOI":"10.1007\/s004390050798","volume":"103","author":"K Devriendt","year":"1998","unstructured":"Devriendt K, Matthijs G, Van Damme B et al: Missense mutation and hexanucleotide duplication in the PAX2 gene in two unrelated families with renal-coloboma syndrome (MIM 120330). Hum Genet 1998; 103: 149\u2013153.","journal-title":"Hum Genet"},{"key":"BFejhg2011102_CR38","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1093\/hmg\/9.1.1","volume":"9","author":"S Porteous","year":"2000","unstructured":"Porteous S, Torban E, Cho NP et al: Primary renal hypoplasia in humans and mice with PAX2 mutations: evidence of increased apoptosis in fetal kidneys of Pax2(1Neu) +\/\u2212 mutant mice. Hum Mol Genet 2000; 9: 1\u201311.","journal-title":"Hum Mol Genet"},{"key":"BFejhg2011102_CR39","doi-asserted-by":"publisher","first-page":"213","DOI":"10.1136\/jmg.34.3.213","volume":"34","author":"K Narahara","year":"1997","unstructured":"Narahara K, Baker E, Ito S et al: Localisation of a 10q breakpoint within the PAX2 gene in a patient with a de novo t(10;13) translocation and optic nerve coloboma-renal disease. J Med Genet 1997; 34: 213\u2013216.","journal-title":"J Med Genet"},{"key":"BFejhg2011102_CR40","doi-asserted-by":"publisher","first-page":"2076","DOI":"10.1093\/ndt\/gfm187","volume":"22","author":"E Benetti","year":"2007","unstructured":"Benetti E, Artifoni L, Salviati L et al: Renal hypoplasia without optic coloboma associated with PAX2 gene deletion. Nephrol Dial Transplant 2007; 22: 2076\u20132078.","journal-title":"Nephrol Dial Transplant"},{"key":"BFejhg2011102_CR41","doi-asserted-by":"crossref","unstructured":"Raca G, Jackson CA, Kucinskas L et al: Array comparative genomic hybridization analysis in patients with anophthalmia, microphthalmia, and coloboma. Genet Med 2011.","DOI":"10.1097\/GIM.0b013e318204cfd2"},{"key":"BFejhg2011102_CR42","doi-asserted-by":"publisher","first-page":"881","DOI":"10.1136\/jmg.2004.025494","volume":"41","author":"CY Gregory-Evans","year":"2004","unstructured":"Gregory-Evans CY, Williams MJ, Halford S, Gregory-Evans K : Ocular coloboma: a reassessment in the age of molecular neuroscience. J Med Genet 2004; 41: 881\u2013891.","journal-title":"J Med Genet"},{"key":"BFejhg2011102_CR43","doi-asserted-by":"publisher","first-page":"e1000870","DOI":"10.1371\/journal.pgen.1000870","volume":"6","author":"RP Alur","year":"2010","unstructured":"Alur RP, Vijayasarathy C, Brown JD et al: Papillorenal syndrome-causing missense mutations in PAX2\/Pax2 result in hypomorphic alleles in mouse and human. PLoS Genet 2010; 6: e1000870.","journal-title":"PLoS Genet"},{"key":"BFejhg2011102_CR44","doi-asserted-by":"publisher","first-page":"209","DOI":"10.1006\/dbio.1997.8794","volume":"193","author":"DC Otteson","year":"1998","unstructured":"Otteson DC, Shelden E, Jones JM, Kameoka J, Hitchcock PF : Pax2 expression and retinal morphogenesis in the normal and Krd mouse. Dev Biol 1998; 193: 209\u2013224.","journal-title":"Dev Biol"},{"key":"BFejhg2011102_CR45","doi-asserted-by":"publisher","first-page":"2020","DOI":"10.1167\/iovs.03-1169","volume":"45","author":"T Chan-Ling","year":"2004","unstructured":"Chan-Ling T, McLeod DS, Hughes S et al: Astrocyte-endothelial cell relationships during human retinal vascular development. Invest Ophthalmol Vis Sci 2004; 45: 2020\u20132032.","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"BFejhg2011102_CR46","doi-asserted-by":"crossref","first-page":"3049","DOI":"10.1242\/dev.125.16.3049","volume":"125","author":"K Lun","year":"1998","unstructured":"Lun K, Brand M : A series of no isthmus (noi) alleles of the zebrafish pax2.1 gene reveals multiple signaling events in development of the midbrain-hindbrain boundary. Development 1998; 125: 3049\u20133062.","journal-title":"Development"},{"key":"BFejhg2011102_CR47","doi-asserted-by":"publisher","first-page":"3863","DOI":"10.1242\/dev.034876","volume":"136","author":"GR Dressler","year":"2009","unstructured":"Dressler GR : Advances in early kidney specification, development and patterning. Development 2009; 136: 3863\u20133874.","journal-title":"Development"},{"key":"BFejhg2011102_CR48","doi-asserted-by":"crossref","first-page":"4057","DOI":"10.1242\/dev.121.12.4057","volume":"121","author":"M Torres","year":"1995","unstructured":"Torres M, Gomez-Pardo E, Dressler GR, Gruss P : Pax-2 controls multiple steps of urogenital development. Development 1995; 121: 4057\u20134065.","journal-title":"Development"},{"key":"BFejhg2011102_CR49","doi-asserted-by":"publisher","first-page":"13870","DOI":"10.1073\/pnas.93.24.13870","volume":"93","author":"J Favor","year":"1996","unstructured":"Favor J, Sandulache R, Neuhauser-Klaus A et al: The mouse Pax2(1Neu) mutation is identical to a human PAX2 mutation in a family with renal-coloboma syndrome and results in developmental defects of the brain, ear, eye, and kidney. Proc Natl Acad Sci USA 1996; 93: 13870\u201313875.","journal-title":"Proc Natl Acad Sci USA"},{"key":"BFejhg2011102_CR50","doi-asserted-by":"publisher","first-page":"F1736","DOI":"10.1152\/ajprenal.00221.2007","volume":"293","author":"IJ Murawski","year":"2007","unstructured":"Murawski IJ, Myburgh DB, Favor J, Gupta IR : Vesico-ureteric reflux and urinary tract development in the Pax21Neu+\/\u2212 mouse. Am J Physiol Renal Physiol 2007; 293: F1736\u2013F1745.","journal-title":"Am J Physiol Renal Physiol"},{"key":"BFejhg2011102_CR51","doi-asserted-by":"crossref","first-page":"711","DOI":"10.1242\/dev.119.3.711","volume":"119","author":"UW Rothenpieler","year":"1993","unstructured":"Rothenpieler UW, Dressler GR : Pax-2 is required for mesenchyme-to-epithelium conversion during kidney development. Development 1993; 119: 711\u2013720.","journal-title":"Development"},{"key":"BFejhg2011102_CR52","doi-asserted-by":"publisher","first-page":"1283","DOI":"10.1007\/s00467-007-0525-z","volume":"22","author":"HI Cheong","year":"2007","unstructured":"Cheong HI, Cho HY, Kim JH, Yu YS, Ha IS, Choi Y : A clinico-genetic study of renal coloboma syndrome in children. Pediatr Nephrol 2007; 22: 1283\u20131289.","journal-title":"Pediatr Nephrol"}],"container-title":["European Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.nature.com\/articles\/ejhg2011102.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/ejhg2011102","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/ejhg2011102.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,5,18]],"date-time":"2023-05-18T17:02:29Z","timestamp":1684429349000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/ejhg2011102"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2011,6,8]]},"references-count":52,"journal-issue":{"issue":"12","published-print":{"date-parts":[[2011,12]]}},"alternative-id":["BFejhg2011102"],"URL":"https:\/\/doi.org\/10.1038\/ejhg.2011.102","relation":{},"ISSN":["1018-4813","1476-5438"],"issn-type":[{"value":"1018-4813","type":"print"},{"value":"1476-5438","type":"electronic"}],"subject":[],"published":{"date-parts":[[2011,6,8]]}}}