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Kochhar A, Fischer SM, Kimberling WJ, Smith RJ. Branchio-oto-renal syndrome. Am J Med Genet A. 2007; 143A:1671-1678.","DOI":"10.1002\/ajmg.a.31561"},{"key":"2","doi-asserted-by":"crossref","unstructured":"2. Fraser FC, Sproule JR, Halal F. Frequency of the branchio-oto-renal (BOR) syndrome in children with profound hearing loss. Am J Med Genet. 1980; 7:341-349.","DOI":"10.1002\/ajmg.1320070316"},{"key":"3","doi-asserted-by":"crossref","unstructured":"3. Abdelhak S, Kalatzis V, Heilig R, <i>et al<\/i>. A human homologue of the Drosophila eyes absent gene underlies branchio-oto-renal (BOR) syndrome and identifies a novel gene family. Nat Genet. 1997; 15:157-164.","DOI":"10.1038\/ng0297-157"},{"key":"4","doi-asserted-by":"crossref","unstructured":"4. Hwang DY, Dworschak GC, Kohl S, Saisawat P, Vivante A, Hilger AC, Reutter HM, Soliman NA, Bogdanovic R, Kehinde EO, Tasic V, Hildebrandt F. Mutations in 12 known dominant disease-causing genes clarify many congenital anomalies of the kidney and urinary tract. Kidney Int. 2014; 85:1429-1433.","DOI":"10.1038\/ki.2013.508"},{"key":"5","doi-asserted-by":"crossref","unstructured":"6. Wang SH, Wu CC, Lu YC, Lin YH, Su YN, Hwu WL, Yu IS, Hsu CJ. Mutation screening of the <i>EYA1<\/i>, <i>SIX1<\/i>, and <i>SIX5<\/i> genes in an East Asian cohort with branchio-oto-renal syndrome. Laryngoscope. 2012; 122:1130-1136.","DOI":"10.1002\/lary.23217"},{"key":"6","doi-asserted-by":"crossref","unstructured":"7. Gigante M, d&apos;Altilia M, Montemurno E, Diella S, Bruno F, Netti GS, Ranieri E, Stallone G, Infante B, Grandaliano G, Gesualdo L. Branchio-Oto-Renal Syndrome (BOR) associated with focal glomerulosclerosis in a patient with a novel EYA1 splice site mutation. BMC Nephrol. 2013; 14:60.","DOI":"10.1186\/1471-2369-14-60"},{"key":"7","doi-asserted-by":"crossref","unstructured":"8. Vincent C, Kalatzis V, Abdelhak S, Chaib H, Compain S, Helias J, Vaneecloo FM, Petit C. BOR and BO syndromes are allelic defects of EYA1. Eur J Hum Genet. 1997; 5:242-246.","DOI":"10.1159\/000484770"},{"key":"8","doi-asserted-by":"crossref","unstructured":"9. Chang EH, Menezes M, Meyer NC, Cucci RA, Vervoort VS, Schwartz CE, Smith RJ. Branchio-oto-renal syndrome: The mutation spectrum in EYA1 and its phenotypic consequences. Hum Mutat. 2004; 23:582-589.","DOI":"10.1002\/humu.20048"},{"key":"9","doi-asserted-by":"crossref","unstructured":"10. Kim HR, Song MH, Kim MA, Kim YR, Lee KY, Sonn JK, Lee J, Choi JY, Kim UK. Identification of a novel nonsynonymous mutation of EYA1 disrupting splice site in a Korean patient with BOR syndrome. Mol Biol Rep. 2014; 41:4321-4327.","DOI":"10.1007\/s11033-014-3303-6"},{"key":"10","doi-asserted-by":"crossref","unstructured":"11. Amrhein P, Sittel C, Spaich C, Kohlhase J, Boppert R, Kohlhof P, Koitschev A. Middle ear salivary gland choristoma related to branchio-oto-renal syndrome diagnosed by array-CGH. HNO. 2014; 62:374-377. (in German)","DOI":"10.1007\/s00106-013-2728-x"},{"key":"11","doi-asserted-by":"crossref","unstructured":"12. Brophy PD, Alasti F, Darbro BW, Clarke J, Nishimura C, Cobb B, Smith RJ, Manak JR. Genome-wide copy number variation analysis of a Branchio-oto-renal syndrome cohort identifies a recombination hotspot and implicates new candidate genes. Hum Genet. 2013; 132:1339-1350.","DOI":"10.1007\/s00439-013-1338-8"},{"key":"12","doi-asserted-by":"crossref","unstructured":"13. Krug P, Moriniere V, Marlin S, Koubi V, Gabriel HD, Colin E, Bonneau D, Salomon R, Antignac C, Heidet L. Mutation screening of the <i>EYA1<\/i>, <i>SIX1<\/i>, and <i>SIX5<\/i> genes in a large cohort of patients harboring branchio-oto-renal syndrome calls into question the pathogenic role of SIX5 mutations. 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