{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,8,28]],"date-time":"2025-08-28T03:40:01Z","timestamp":1756352401830,"version":"3.44.0"},"reference-count":22,"publisher":"Elsevier BV","issue":"4","license":[{"start":{"date-parts":[[2025,8,1]],"date-time":"2025-08-01T00:00:00Z","timestamp":1754006400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2025,8,1]],"date-time":"2025-08-01T00:00:00Z","timestamp":1754006400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2026,8,28]],"date-time":"2026-08-28T00:00:00Z","timestamp":1787875200000},"content-version":"am","delay-in-days":392,"URL":"http:\/\/www.elsevier.com\/open-access\/userlicense\/1.0\/"}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Auris Nasus Larynx"],"published-print":{"date-parts":[[2025,8]]},"DOI":"10.1016\/j.anl.2025.07.005","type":"journal-article","created":{"date-parts":[[2025,7,21]],"date-time":"2025-07-21T20:11:02Z","timestamp":1753128662000},"page":"522-526","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":0,"title":["Feingold syndrome with GJB2 variants"],"prefix":"10.1016","volume":"52","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-4260-4673","authenticated-orcid":false,"given":"Yoshihiro","family":"Nitta","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0645-2521","authenticated-orcid":false,"given":"Hajime","family":"Sano","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yoshihiro","family":"Yoshimura","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fumio","family":"Takada","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Taku","family":"Yamashita","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.anl.2025.07.005_bib0001","doi-asserted-by":"crossref","first-page":"16","DOI":"10.1111\/j.1749-6632.1991.tb19572.x","article-title":"Genetic epidemiology of hearing impairment","volume":"630","author":"Morton","year":"1991","journal-title":"Ann N Y Acad Sci"},{"key":"10.1016\/j.anl.2025.07.005_bib0002","doi-asserted-by":"crossref","first-page":"1605","DOI":"10.1093\/hmg\/6.9.1605","article-title":"Connexin26 mutations associated with the most common form of non-syndromic neurosensory autosomal recessive deafness (DFNB1) in Mediterraneans","volume":"6","author":"Zelante","year":"1997","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.anl.2025.07.005_bib0003","doi-asserted-by":"crossref","first-page":"945","DOI":"10.1086\/497996","article-title":"GJB2 mutations and degree of hearing loss: a multicenter study","volume":"77","author":"Snoeckx","year":"2005","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.anl.2025.07.005_bib0004","doi-asserted-by":"crossref","first-page":"101","DOI":"10.1007\/BF00186783","article-title":"Gap junctions in the rat cochlea: immunohistochemical and ultrastructural analysis","volume":"191","author":"Kikuchi","year":"1995","journal-title":"Anat Embryol (Berl)"},{"key":"10.1016\/j.anl.2025.07.005_bib0005","doi-asserted-by":"crossref","first-page":"80","DOI":"10.1016\/j.ijporl.2017.09.011","article-title":"GJB2 mutations: genotypic and phenotypic correlation in a cohort of 690 hearing-impaired patients, toward a new mutation?","volume":"102","author":"Leclere","year":"2017","journal-title":"Int J Pediatr Otorhinolaryngol"},{"key":"10.1016\/j.anl.2025.07.005_bib0006","doi-asserted-by":"crossref","first-page":"E34","DOI":"10.1002\/lary.24332","article-title":"GJB2-associated hearing loss: systematic review of worldwide prevalence, genotype, and auditory phenotype","volume":"124","author":"Chan","year":"2014","journal-title":"Laryngoscope"},{"issue":"Suppl 1","key":"10.1016\/j.anl.2025.07.005_bib0007","doi-asserted-by":"crossref","first-page":"61S","DOI":"10.1177\/0003489415575060","article-title":"Ethnic-specific spectrum of GJB2 and SLC26A4 mutations: their origin and a literature review","volume":"124","author":"Tsukada","year":"2015","journal-title":"Ann Otol Rhinol Laryngol"},{"key":"10.1016\/j.anl.2025.07.005_bib0008","doi-asserted-by":"crossref","first-page":"464","DOI":"10.1111\/j.1399-0004.2010.01407.x","article-title":"A large cohort study of GJB2 mutations in Japanese hearing loss patients","volume":"78","author":"Tsukada","year":"2010","journal-title":"Clin Genet"},{"key":"10.1016\/j.anl.2025.07.005_bib0009","doi-asserted-by":"crossref","first-page":"541","DOI":"10.1001\/archotol.130.5.541","article-title":"GJB2 gene mutations in cochlear implant recipients: prevalence and impact on outcome","volume":"130","author":"Lustig","year":"2004","journal-title":"Arch Otolaryngol Head Neck Surg"},{"key":"10.1016\/j.anl.2025.07.005_bib0010","doi-asserted-by":"crossref","first-page":"151","DOI":"10.1016\/S0165-5876(01)00619-X","article-title":"Better speech performance in cochlear implant patients with GJB2-related deafness","volume":"62","author":"Fukushima","year":"2002","journal-title":"Int J Pediatr Otorhinolaryngol"},{"key":"10.1016\/j.anl.2025.07.005_bib0011","doi-asserted-by":"crossref","first-page":"29","DOI":"10.1002\/ajmg.a.32597","article-title":"Elements of morphology: standard terminology for the periorbital region","volume":"149A","author":"Hall","year":"2009","journal-title":"Am J Med Genet A"},{"key":"10.1016\/j.anl.2025.07.005_bib0012","doi-asserted-by":"crossref","first-page":"780","DOI":"10.1097\/MAO.0b013e3181d8d528","article-title":"Imaging characteristics of children with auditory neuropathy spectrum disorder","volume":"31","author":"Roche","year":"2010","journal-title":"Otol Neurotol"},{"key":"10.1016\/j.anl.2025.07.005_bib0013","doi-asserted-by":"crossref","first-page":"1509","DOI":"10.1007\/s00247-010-1609-7","article-title":"CT and MR imaging for pediatric cochlear implantation: emphasis on the relationship between the cochlear nerve canal and the cochlear nerve","volume":"40","author":"Miyasaka","year":"2010","journal-title":"Pediatr Radiol"},{"key":"10.1016\/j.anl.2025.07.005_bib0014","doi-asserted-by":"crossref","first-page":"678","DOI":"10.1002\/mgg3.399","article-title":"Simple and efficient germline copy number variant visualization method for the Ion AmpliSeq custom panel","volume":"6","author":"Nishio","year":"2018","journal-title":"Mol Genet Genomic Med"},{"key":"10.1016\/j.anl.2025.07.005_bib0015","doi-asserted-by":"crossref","first-page":"481","DOI":"10.1016\/j.braindev.2015.11.001","article-title":"Comparison of the Kyoto Scale of Psychological Development 2001 with the parent-rated Kinder Infant Development Scale (KIDS)","volume":"38","author":"Aoki","year":"2016","journal-title":"Brain Dev"},{"key":"10.1016\/j.anl.2025.07.005_bib0016","doi-asserted-by":"crossref","first-page":"294","DOI":"10.1002\/ajmg.a.20471","article-title":"Feingold syndrome: clinical review and genetic mapping","volume":"122A","author":"Celli","year":"2003","journal-title":"Am J Med Genet A"},{"key":"10.1016\/j.anl.2025.07.005_bib0017","doi-asserted-by":"crossref","first-page":"2254","DOI":"10.1002\/ajmg.a.31407","article-title":"Expanding the clinical spectrum of MYCN-related Feingold syndrome","volume":"140","author":"Teszas","year":"2006","journal-title":"Am J Med Genet A"},{"key":"10.1016\/j.anl.2025.07.005_bib0018","doi-asserted-by":"crossref","first-page":"447","DOI":"10.1159\/000524058","article-title":"First patient diagnosed as Feingold Syndrome type 2 with Alport syndrome and review of the current literature","volume":"13","author":"Demir","year":"2022","journal-title":"Mol Syndromol"},{"key":"10.1016\/j.anl.2025.07.005_bib0019","doi-asserted-by":"crossref","first-page":"919","DOI":"10.1017\/S0022215100145591","article-title":"Feingold syndrome\u2013a cause of profound deafness","volume":"113","author":"Dodds","year":"1999","journal-title":"J Laryngol Otol"},{"key":"10.1016\/j.anl.2025.07.005_bib0020","doi-asserted-by":"crossref","first-page":"666","DOI":"10.1016\/j.ejmg.2012.07.003","article-title":"A de novo 4.4-mb microdeletion in 2p24.3 \u2013>p24.2 in a girl with bilateral hearing impairment, microcephaly, digit abnormalities and Feingold syndrome","volume":"55","author":"Chen","year":"2012","journal-title":"Eur J Med Genet"},{"key":"10.1016\/j.anl.2025.07.005_bib0021","doi-asserted-by":"crossref","first-page":"730","DOI":"10.1080\/00016489.2016.1276303","article-title":"Outcomes of cochlear implantation for the patients with specific genetic etiologies: a systematic literature review","volume":"137","author":"Nishio","year":"2017","journal-title":"Acta Otolaryngol"},{"key":"10.1016\/j.anl.2025.07.005_bib0022","doi-asserted-by":"crossref","first-page":"3338","DOI":"10.1038\/s41598-021-82818-9","article-title":"Correlation of cochlear aperture stenosis with cochlear nerve deficiency in congenital unilateral hearing loss and prognostic relevance for cochlear implantation","volume":"11","author":"Orzan","year":"2021","journal-title":"Sci Rep"}],"container-title":["Auris Nasus Larynx"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0385814625001051?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0385814625001051?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,8,28]],"date-time":"2025-08-28T03:03:22Z","timestamp":1756350202000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0385814625001051"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,8]]},"references-count":22,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2025,8]]}},"alternative-id":["S0385814625001051"],"URL":"https:\/\/doi.org\/10.1016\/j.anl.2025.07.005","relation":{},"ISSN":["0385-8146"],"issn-type":[{"type":"print","value":"0385-8146"}],"subject":[],"published":{"date-parts":[[2025,8]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Feingold syndrome with GJB2 variants","name":"articletitle","label":"Article Title"},{"value":"Auris Nasus Larynx","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.anl.2025.07.005","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2025 Japanese Society of Otorhinolaryngology-Head and Neck Surgery, Inc. Published by Elsevier B.V. All rights are reserved, including those for text and data mining, AI training, and similar technologies.","name":"copyright","label":"Copyright"}]}}