{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,23]],"date-time":"2026-09-23T04:12:05Z","timestamp":1790136725484,"version":"4.0.1"},"reference-count":48,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2013,5,24]],"date-time":"2013-05-24T00:00:00Z","timestamp":1369353600000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["BMC Med Genet"],"published-print":{"date-parts":[[2013,12]]},"DOI":"10.1186\/1471-2350-14-56","type":"journal-article","created":{"date-parts":[[2013,5,24]],"date-time":"2013-05-24T10:18:10Z","timestamp":1369390690000},"source":"Crossref","is-referenced-by-count":7,"title":["Pathogenic substitution of IVS15 + 5G > A in SLC26A4 in patients of Okinawa Islands with enlarged vestibular aqueduct syndrome or Pendred syndrome"],"prefix":"10.1186","volume":"14","author":[{"given":"Akira","family":"Ganaha","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tadashi","family":"Kaname","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kumiko","family":"Yanagi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kenji","family":"Naritomi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tetsuya","family":"Tono","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shin-ichi","family":"Usami","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mikio","family":"Suzuki","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2013,5,24]]},"reference":[{"key":"1086_CR1","doi-asserted-by":"publisher","first-page":"257","DOI":"10.1016\/0165-5876(95)01183-C","volume":"32","author":"MP Downs","year":"1995","unstructured":"Downs MP: Universal newborn hearing screening\u2013the Colorado story. Int J Pediatr Otorhinolaryngol. 1995, 32: 257-259. 10.1016\/0165-5876(95)01183-C.","journal-title":"Int J Pediatr Otorhinolaryngol"},{"key":"1086_CR2","doi-asserted-by":"publisher","first-page":"E4","DOI":"10.1542\/peds.101.1.e4","volume":"101","author":"AL Mehl","year":"1998","unstructured":"Mehl AL, Thomson V: Newborn hearing screening: the great omission. Pediatrics. 1998, 101: E4-","journal-title":"Pediatrics"},{"key":"1086_CR3","doi-asserted-by":"publisher","first-page":"E7","DOI":"10.1542\/peds.109.1.e7","volume":"109","author":"AL Mehl","year":"2002","unstructured":"Mehl AL, Thomson V: The Colorado newborn hearing screening project, 1992\u20131999: on the threshold of effective population-based universal newborn hearing screening. Pediatrics. 2002, 109: E7-10.1542\/peds.109.1.e7.","journal-title":"Pediatrics"},{"key":"1086_CR4","doi-asserted-by":"publisher","first-page":"73","DOI":"10.1093\/bmb\/63.1.73","volume":"63","author":"M Bitner-Glindzicz","year":"2002","unstructured":"Bitner-Glindzicz M: Hereditary deafness and phenotyping in humans. Br Med Bull. 2002, 63: 73-94. 10.1093\/bmb\/63.1.73.","journal-title":"Br Med Bull"},{"key":"1086_CR5","doi-asserted-by":"publisher","first-page":"16","DOI":"10.1111\/j.1749-6632.1991.tb19572.x","volume":"630","author":"NE Morton","year":"1991","unstructured":"Morton NE: Genetic epidemiogy of hearing impairment. Ann NY Acad Sci. 1991, 630: 16-31. 10.1111\/j.1749-6632.1991.tb19572.x.","journal-title":"Ann NY Acad Sci"},{"key":"1086_CR6","doi-asserted-by":"publisher","first-page":"532","DOI":"10.1016\/S0140-6736(01)74403-0","volume":"2","author":"V Pendred","year":"1896","unstructured":"Pendred V: Deaf-mutation and goiter. Lancet. 1896, 2: 532-","journal-title":"Lancet"},{"key":"1086_CR7","doi-asserted-by":"publisher","first-page":"411","DOI":"10.1038\/ng1297-411","volume":"17","author":"L Everett","year":"1997","unstructured":"Everett L, Glaser B, Beck J, Idol J, Buchs A, Heyman M, Adawi F, Hazani E, Nassir E, Baxevanis A, Sheffield V, Green E: Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS). Nat Genet. 1997, 17: 411-422. 10.1038\/ng1297-411.","journal-title":"Nat Genet"},{"key":"1086_CR8","doi-asserted-by":"publisher","first-page":"215","DOI":"10.1038\/ng0398-215","volume":"18","author":"XC Li","year":"1998","unstructured":"Li XC, Everett LA, Lalwani AK, Desmukh D, Friedman TB, Green ED, Wilcox ER: A mutation in PDS causes non-syndromic recessive deafness. Nat Genet. 1998, 18: 215-217. 10.1038\/ng0398-215.","journal-title":"Nat Genet"},{"key":"1086_CR9","doi-asserted-by":"publisher","first-page":"239","DOI":"10.3109\/00016488609108673","volume":"102","author":"T Johnsen","year":"1986","unstructured":"Johnsen T, J\u00f8rgensen MB, Johnsen S: Mondini cochlea in Pendred\u2019s syndrome. Acta Otolaryngol. 1986, 102: 239-247. 10.3109\/00016488609108673.","journal-title":"Acta Otolaryngol"},{"key":"1086_CR10","doi-asserted-by":"publisher","first-page":"369","DOI":"10.2169\/internalmedicine.33.369","volume":"33","author":"O Nakagawa","year":"1994","unstructured":"Nakagawa O, Ito S, Hanyu O, Yamazaki M, Urushiyama M: Female siblings with Pendred\u2019s syndrome. Int Med. 1994, 33: 369-372. 10.2169\/internalmedicine.33.369.","journal-title":"Int Med"},{"key":"1086_CR11","doi-asserted-by":"publisher","first-page":"443","DOI":"10.1093\/qjmed\/90.7.443","volume":"90","author":"W Reardon","year":"1997","unstructured":"Reardon W, Trembath RC: Pendred syndrome - 100 years of underascertainment?. Q J Med. 1997, 90: 443-447. 10.1093\/qjmed\/90.7.443.","journal-title":"Q J Med"},{"key":"1086_CR12","doi-asserted-by":"publisher","first-page":"404","DOI":"10.1002\/humu.1116","volume":"17","author":"C Campbell","year":"2001","unstructured":"Campbell C, Cucci RA, Prasad S, Green GE, Edeal JB, Galer CE, Karniski LP, Sheffield VC, Smith RJ: Pendred syndrome, DFNB4, and PDS\/SLC26A4 identification of eight novel mutation and possible genotype\u2013phenotype correlations. Hum Mutat. 2001, 17: 404-411.","journal-title":"Hum Mutat"},{"key":"1086_CR13","doi-asserted-by":"publisher","first-page":"188","DOI":"10.1007\/s004390050933","volume":"104","author":"S Usami","year":"1999","unstructured":"Usami S, Abe S, Weston MD, Shinkawa H, Camp GV, Kimberling WJ: Non-syndromic hearing loss associated with enlarged vestibular aqueduct is caused by PDS mutations. Hum Genet. 1999, 104: 188-192. 10.1007\/s004390050933.","journal-title":"Hum Genet"},{"key":"1086_CR14","doi-asserted-by":"publisher","first-page":"242","DOI":"10.1136\/jmg.40.4.242","volume":"40","author":"HJ Park","year":"2003","unstructured":"Park HJ, Shaukat S, Liu XZ, Hahn SH, Naz S, Ghosh M, Kim HN, Moon SK, Abe S, Tsukamoto K, Riazuddin S, Kabra M, Erdenetungalag R, Radnaabazar J, Khan S, Pandya A, Usami S-I, Nance WE, Wilcox ER, Riazuddin S, Griffith AJ: Origins and frequencies of SLC26A4 (PDS) mutations in east and south Asians: Global implications for the epidemiology of deafness. J Med Genet. 2003, 40: 242-248. 10.1136\/jmg.40.4.242.","journal-title":"J Med Genet"},{"key":"1086_CR15","doi-asserted-by":"publisher","first-page":"916","DOI":"10.1038\/sj.ejhg.5201073","volume":"11","author":"K Tsukamoto","year":"2003","unstructured":"Tsukamoto K, Suzuki H, Harada D, Namba A, Abe S, Usami S: Distribution and frequencies of PDS (SLC26A4) mutations in Pendred syndrome and nonsyndromic hearing loss associated with enlarged vestibular aqueduct: a unique spectrum of mutations in Japanese. Eur J Hum Genet. 2003, 11: 916-922. 10.1038\/sj.ejhg.5201073.","journal-title":"Eur J Hum Genet"},{"key":"1086_CR16","doi-asserted-by":"publisher","first-page":"787","DOI":"10.1038\/jhg.2012.114","volume":"57","author":"T Jinam","year":"2012","unstructured":"Jinam T, Nishida N, Hirai M, Kawamura S, Oota H, Umetsu K, Kimura R, Ohashi J, Tajima A, Yamamoto T, Tanabe H, Mano S, Suto Y, Kaname T, Naritomi K, Yanagi K, Niikawa N, Omoto K, Tokunaga K, Saitou N, Japanese Archipelago Human Population Genetics Consortium: The history of human populations in the Japanese Archipelago inferred from genome-wide SNP data with a special reference to the Ainu and the Ryukyuan populations. J Hum Genet. 2012, 57: 787-795. 10.1038\/jhg.2012.114.","journal-title":"J Hum Genet"},{"key":"1086_CR17","doi-asserted-by":"crossref","first-page":"723","DOI":"10.1002\/lary.1978.88.5.723","volume":"88","author":"GE Valvassori","year":"1978","unstructured":"Valvassori GE, Clemis JD: The large vestibular aqueduct syndrome. Laryngoscope. 1978, 88: 723-728.","journal-title":"Laryngoscope"},{"key":"1086_CR18","doi-asserted-by":"publisher","first-page":"370","DOI":"10.1259\/0007-1285-65-773-370","volume":"65","author":"PD Phelps","year":"1992","unstructured":"Phelps PD: The basal turn of the cochlea. Br J Radiol. 1992, 65: 370-374. 10.1259\/0007-1285-65-773-370.","journal-title":"Br J Radiol"},{"key":"1086_CR19","doi-asserted-by":"publisher","first-page":"537","DOI":"10.1148\/radiol.2352031583","volume":"235","author":"M Goldfeld","year":"2005","unstructured":"Goldfeld M, Glaser B, Nassir E, Gomori JM, Hazani E, Bishara N: CT of the ear in pendred syndrome. Radiology. 2005, 235: 537-540. 10.1148\/radiol.2352031583.","journal-title":"Radiology"},{"key":"1086_CR20","first-page":"1435","volume":"20","author":"HC Davidson","year":"1999","unstructured":"Davidson HC, Harnsberger HR, Lemmerling MM, Mancuso AA, White DK, Tong KA, Dahlen RT, Shelton C: MR evaluation of vestibulocochlear anomalies associated with large endolymphatic duct and sac. AJNR Am J Neuroradiol. 1999, 20: 1435-1441.","journal-title":"AJNR Am J Neuroradiol"},{"key":"1086_CR21","doi-asserted-by":"publisher","first-page":"201","DOI":"10.1111\/j.1469-1809.1964.tb00479.x","volume":"28","author":"GR Fraser","year":"1965","unstructured":"Fraser GR: Association of congenital deafness with goiter (Pendred\u2019s syndrome): a study of 207 families. Ann Hum Genet. 1965, 28: 201-249.","journal-title":"Ann Hum Genet"},{"key":"1086_CR22","doi-asserted-by":"crossref","first-page":"95","DOI":"10.1016\/S0030-6665(20)32095-8","volume":"16","author":"GE Valvassori","year":"1983","unstructured":"Valvassori GE: The large vestibular aqueduct and associated anomalies of the inner ear. Otolaryngol Clin North Am. 1983, 16: 95-101.","journal-title":"Otolaryngol Clin North Am"},{"key":"1086_CR23","doi-asserted-by":"publisher","first-page":"1238","DOI":"10.1288\/00005537-198912000-00006","volume":"99","author":"RK Jackler","year":"1989","unstructured":"Jackler RK, de la Cruz A: The large vestibular aqueduct syndrome. Laryngoscope. 1989, 99: 1238-1243.","journal-title":"Laryngoscope"},{"key":"1086_CR24","doi-asserted-by":"publisher","first-page":"54","DOI":"10.1001\/archotol.1989.01860250056026","volume":"115","author":"MJ Levenson","year":"1989","unstructured":"Levenson MJ, Parisier SC, Jacobs M, Edelstein DR: The large vestibular aqueduct syndrome in children. Arch Otolaryngol Head Neck Surg. 1989, 115: 54-58. 10.1001\/archotol.1989.01860250056026.","journal-title":"Arch Otolaryngol Head Neck Surg"},{"key":"1086_CR25","first-page":"247","volume":"20","author":"P Arcand","year":"1991","unstructured":"Arcand P, Desrosiers M, Dube J, Abela A: The large vestibular aqueduct syndrome and seisorineural hearing loss in the pediatric population. J Otolaryngol. 1991, 20: 247-250.","journal-title":"J Otolaryngol"},{"key":"1086_CR26","first-page":"746","volume":"72","author":"WM Belenky","year":"1993","unstructured":"Belenky WM, Madgy DN, Leider JS, Becker C, Hotaling AJ: The enlarged vestivular aqueduct syndrome (EVA syndrome). ENT J. 1993, 72: 746-751.","journal-title":"ENT J"},{"key":"1086_CR27","doi-asserted-by":"publisher","first-page":"289","DOI":"10.1288\/00005537-199503000-00012","volume":"105","author":"T Okumura","year":"1995","unstructured":"Okumura T, Takahashi H, Honjo I, Takagi A, Mitamura K: Sensorineural hearing loss in patients with large vestibular aqueduct. Laryngoscope. 1995, 105: 289-294. 10.1288\/00005537-199503000-00012.","journal-title":"Laryngoscope"},{"key":"1086_CR28","doi-asserted-by":"publisher","first-page":"207","DOI":"10.1016\/S0165-5876(01)00573-0","volume":"61","author":"C Stinckens","year":"2001","unstructured":"Stinckens C, Huygen PL, Joosten FB, Van Camp G, Otten B, Cremers CW: Fluctuant, progressive hearing loss associated with Meniere like vertigo in three patients with the Pendred syndrome. Int J Pediatr Otorhinolaryngol. 2001, 61: 207-215. 10.1016\/S0165-5876(01)00573-0.","journal-title":"Int J Pediatr Otorhinolaryngol"},{"key":"1086_CR29","doi-asserted-by":"publisher","first-page":"113","DOI":"10.1016\/S0165-5876(98)00123-2","volume":"45","author":"CW Cremers","year":"1998","unstructured":"Cremers CW, Admiraal RJ, Huygen PL, Bolder C, Everett LA, Joosten FB, Green ED, van Camp G, Otten BJ: Progressive hearing loss, hypoplasia of the cochlea and widened vestibular aqueducts are very common features in Pendred\u2019s syndrome. Int J Pediatr Otorhinolaryngol. 1998, 45: 113-123. 10.1016\/S0165-5876(98)00123-2.","journal-title":"Int J Pediatr Otorhinolaryngol"},{"key":"1086_CR30","doi-asserted-by":"publisher","first-page":"93","DOI":"10.1677\/JME-08-0175","volume":"43","author":"S Dossena","year":"2009","unstructured":"Dossena S, Rodighiero S, Vezzoli V, Nofziger C, Salvioni E, Boccazzi M, Grabmayer E, Botta G, Meyer G, Fugazzola L, Beck-Peccoz P, Paulmichl M: Functional characterization of wildtype and mutated pendrin (SLC26A4), the anion transporter involved in Pendred syndrome. J Mol Endocrinol. 2009, 43: 93-103. 10.1677\/JME-08-0175.","journal-title":"J Mol Endocrinol"},{"key":"1086_CR31","doi-asserted-by":"publisher","first-page":"18","DOI":"10.1055\/s-2001-11008","volume":"109","author":"L Fugazzola","year":"2001","unstructured":"Fugazzola L, Cerutti N, Mannavola D, Vannucchi G, Beck-Peccoz P: The role of pendrin in iodide regulation. Exp Clin Endocr Diab. 2001, 109: 18-22. 10.1055\/s-2001-11008.","journal-title":"Exp Clin Endocr Diab"},{"key":"1086_CR32","doi-asserted-by":"publisher","first-page":"440","DOI":"10.1038\/7783","volume":"21","author":"D Scott","year":"1999","unstructured":"Scott D, Wang R, Kreman T, Sheffield V, Karniski L: The Pendred syndrome gene encodes a chloride-iodide transport protein. Nat Genet. 1999, 21: 440-443. 10.1038\/7783.","journal-title":"Nat Genet"},{"key":"1086_CR33","doi-asserted-by":"publisher","first-page":"1709","DOI":"10.1093\/hmg\/9.11.1709","volume":"9","author":"DA Scott","year":"2000","unstructured":"Scott DA, Wang R, Kreman TM, Andrews M, McDonald JM, Bishop JR, Smith RJH, Karnishki LP, Sheffield VC: Functional differences of the PDS gene product are associated with phenotypic variation in patients with Pendred syndrome and non-syndromic hearing loss (DFNB4). Hum Mol Genet. 2000, 9: 1709-1715. 10.1093\/hmg\/9.11.1709.","journal-title":"Hum Mol Genet"},{"key":"1086_CR34","first-page":"595","volume":"36","author":"W Reardon","year":"1999","unstructured":"Reardon W, Coffey R, Chowdhury T, Grossman A, Jan H, Britton K, Kendall-Taylor P, Trembath R: Prevalence, age of onset, and natural history of thyroid disease in Pendred syndrome. J Med Genet. 1999, 36: 595-598.","journal-title":"J Med Genet"},{"key":"1086_CR35","doi-asserted-by":"publisher","first-page":"5347","DOI":"10.1210\/jc.2004-1013","volume":"89","author":"U Napiontek","year":"2004","unstructured":"Napiontek U, Borck G, Muller-Forell W, Pfarr N, Bohnert A, Keilmann A, Pohlenz J: Intrafamilial variability of the deafness and goiter phenotype in Pendred syndrome caused by a T416P mutation in the SLC26A4 gene. J Clin Endocrinol Metab. 2004, 89: 5347-5351. 10.1210\/jc.2004-1013.","journal-title":"J Clin Endocrinol Metab"},{"key":"1086_CR36","doi-asserted-by":"publisher","first-page":"805","DOI":"10.1007\/s10038-006-0027-z","volume":"51","author":"S Iwasaki","year":"2006","unstructured":"Iwasaki S, Tsukamoto K, Usami S, Misawa K, Mizuta K, Mineta H: Association of SLC26A4 mutation with clinical features and thyroid function in deaf infants with enlarged vestibular aqueduct. J Hum Genet. 2006, 51: 805-810. 10.1007\/s10038-006-0027-z.","journal-title":"J Hum Genet"},{"key":"1086_CR37","doi-asserted-by":"publisher","first-page":"137","DOI":"10.1080\/000164800750000775","volume":"120","author":"K Kitamura","year":"2000","unstructured":"Kitamura K, Takahashi K, Noguchi Y, Kuroishikawa Y, Tamagawa Y, Ishikawa K, Ichimura K, Hagiwara H: Mutations of the Pendred syndrome gene (PDS) in patients with large vestibular aqueduct. Acta Otolaryngol. 2000, 120: 137-141. 10.1080\/000164800750000775.","journal-title":"Acta Otolaryngol"},{"key":"1086_CR38","doi-asserted-by":"publisher","first-page":"586","DOI":"10.1097\/GIM.0b013e31817d2ef1","volume":"10","author":"P Dai","year":"2008","unstructured":"Dai P, Li Q, Huang D, Yuan Y, Kang D, Miller DT, Shao H, Zhu Q, He J, Yu F, Liu X, Han B, Yuan H, Platt OS, Han D, Wu BL: SLC26A4 c.919-2A > G varies among Chinese ethnic groups as a cause of hearing loss. Genet Med. 2008, 10: 586-592. 10.1097\/GIM.0b013e31817d2ef1.","journal-title":"Genet Med"},{"key":"1086_CR39","doi-asserted-by":"publisher","first-page":"972","DOI":"10.1177\/0194599812439670","volume":"146","author":"K Chen","year":"2012","unstructured":"Chen K, Wang X, Sun L, Jiang H: Screening of SLC26A4, FOXI1, KCNJ10, and GJB2 in bilateral deafness patients with inner ear malformation. Otolaryngol Head Neck Surg. 2012, 146: 972-978. 10.1177\/0194599812439670.","journal-title":"Otolaryngol Head Neck Surg"},{"key":"1086_CR40","doi-asserted-by":"publisher","first-page":"1060","DOI":"10.1097\/01.MLG.0000163339.61909.D0","volume":"115","author":"CC Wu","year":"2005","unstructured":"Wu CC, Yeh TH, Chen PJ, Hsu CJ: Prevalent SLC26A4 mutations in patients with enlarged vestibular aqueduct and\/or Mondini dysplasia: a unique spectrum of mutations in Taiwan, including a frequent founder mutation. Laryngoscope. 2005, 115: 1060-1064. 10.1097\/01.MLG.0000163339.61909.D0.","journal-title":"Laryngoscope"},{"issue":"Suppl 1","key":"1086_CR41","doi-asserted-by":"publisher","first-page":"10","DOI":"10.3342\/ceo.2012.5.S1.S10","volume":"30","author":"JW Shin","year":"2012","unstructured":"Shin JW, Lee SC, Lee HK, Park HJ: Genetic screenig of GJB2 and SLC26A4 in Korean cochlear implantees: experience of soree Ear clinic. Clin Exp Otorhinolaryngol. 2012, 30 (Suppl 1): 10-13.","journal-title":"Clin Exp Otorhinolaryngol"},{"key":"1086_CR42","doi-asserted-by":"publisher","first-page":"22","DOI":"10.1016\/j.heares.2004.08.007","volume":"199","author":"JJ Yang","year":"2005","unstructured":"Yang JJ, Tsai CC, Hsu HM, Shiao JY, Su CC, Li SY: Hearing loss associated with enlarged vestibular aqueduct and Mondini dysplasia is caused by splice-site mutation in the PDS gene. Hear Res. 2005, 199: 22-30. 10.1016\/j.heares.2004.08.007.","journal-title":"Hear Res"},{"key":"1086_CR43","doi-asserted-by":"publisher","first-page":"245","DOI":"10.1111\/j.1399-0004.2007.00862.x","volume":"72","author":"QJ Wang","year":"2007","unstructured":"Wang QJ, Zhao YL, Rao SQ, Guo YF, Yuan H, Zong L, Guan J, Xu BC, Wang DY, Han MK, Lan L, Zhai SQ, Shen Y: A distinct spectrum of SLC26A4 mutations in patients with enlarged vestibular aqueduct in China. Clin Genet. 2007, 72: 245-254. 10.1111\/j.1399-0004.2007.00862.x.","journal-title":"Clin Genet"},{"key":"1086_CR44","doi-asserted-by":"publisher","first-page":"502","DOI":"10.1016\/j.otohns.2009.07.004","volume":"141","author":"S Reyes","year":"2009","unstructured":"Reyes S, Wang G, Ouyang X, Han B, Du LL, Yuan HJ, Yan D, Dai P, Liu XZ: Mutation analysis of SLC26A4 in mainland Chinese patients with enlarged vestibular aqueduct. Otolaryngol Head Neck Surg. 2009, 141: 502-508. 10.1016\/j.otohns.2009.07.004.","journal-title":"Otolaryngol Head Neck Surg"},{"key":"1086_CR45","doi-asserted-by":"publisher","first-page":"167","DOI":"10.1186\/1479-5876-9-167","volume":"30","author":"S Huang","year":"2011","unstructured":"Huang S, Han D, Yuan Y, Wang G, Kang D, Zhang X, Yan X, Meng X, Dong M, Dai P: Extremely discrepant mutation spectrum of SLC26A4 between Chinese patients with isolated Mondini deformity and enlarged vestibular aqueduct. J Transl Med. 2011, 30: 167-","journal-title":"J Transl Med"},{"key":"1086_CR46","doi-asserted-by":"publisher","first-page":"41","DOI":"10.1007\/BF00210743","volume":"90","author":"M Krawczak","year":"1992","unstructured":"Krawczak M, Reiss J, Cooper DN: The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: causes and consequences. Hum Genet. 1992, 90: 41-54.","journal-title":"Hum Genet"},{"key":"1086_CR47","doi-asserted-by":"publisher","first-page":"1739","DOI":"10.1093\/hmg\/7.11.1739","volume":"7","author":"S Larriba","year":"1998","unstructured":"Larriba S, Bassas L, Gimenez J, Ramos MD, Segura A, Nunes V, Estivill X, Casals T: Testicular CFTR splice variants in patients with congenital absence of the vas deferens. Hum Mol Genet. 1998, 7: 1739-1744. 10.1093\/hmg\/7.11.1739.","journal-title":"Hum Mol Genet"},{"key":"1086_CR48","doi-asserted-by":"publisher","first-page":"56","DOI":"10.1038\/ejhg.2010.134","volume":"19","author":"OT Betsalel","year":"2011","unstructured":"Betsalel OT, Rosenberg EH, Almeida LS, Kleefstra T, Schwartz CE, Valayannopoulos V, Abdul-Rahman O, Poplawski N, Vilarinho L, Wolf P, den Dunnen JT, Jakobs C, Salomons GS: Characterization of novel SLC6A8 variants with the use of splice-site analysis tools and implementation of a newly developed LOVD database. Eur J Hum Genet. 2011, 19: 56-63. 10.1038\/ejhg.2010.134.","journal-title":"Eur J Hum Genet"}],"container-title":["BMC Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1186\/1471-2350-14-56.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1186\/1471-2350-14-56\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1186\/1471-2350-14-56","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,2,22]],"date-time":"2022-02-22T20:48:14Z","timestamp":1645562894000},"score":1,"resource":{"primary":{"URL":"http:\/\/bmcmedgenet.biomedcentral.com\/articles\/10.1186\/1471-2350-14-56"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,5,24]]},"references-count":48,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2013,12]]}},"alternative-id":["1086"],"URL":"https:\/\/doi.org\/10.1186\/1471-2350-14-56","relation":{},"ISSN":["1471-2350"],"issn-type":[{"value":"1471-2350","type":"electronic"}],"subject":[],"published":{"date-parts":[[2013,5,24]]},"article-number":"56"}}