{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,14]],"date-time":"2026-05-14T10:29:01Z","timestamp":1778754541587,"version":"3.51.4"},"reference-count":53,"publisher":"Elsevier BV","issue":"2","license":[{"start":{"date-parts":[[2021,4,1]],"date-time":"2021-04-01T00:00:00Z","timestamp":1617235200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2021,4,1]],"date-time":"2021-04-01T00:00:00Z","timestamp":1617235200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"funder":[{"DOI":"10.13039\/501100003478","name":"Ministry of Health, Labour and Welfare","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100003478","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100009619","name":"Japan Agency for Medical Research and Development","doi-asserted-by":"publisher","award":["ippan-056"],"award-info":[{"award-number":["ippan-056"]}],"id":[{"id":"10.13039\/100009619","id-type":"DOI","asserted-by":"publisher"}]}],"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":[[2021,4]]},"DOI":"10.1016\/j.anl.2020.08.017","type":"journal-article","created":{"date-parts":[[2020,8,26]],"date-time":"2020-08-26T06:10:43Z","timestamp":1598422243000},"page":"185-193","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":8,"title":["Clinical genetics, practice, and research of deafblindness: From uncollected experiences to the national registry in Japan"],"prefix":"10.1016","volume":"48","author":[{"given":"Tatsuo","family":"Matsunaga","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.anl.2020.08.017_bib0001","year":"2020"},{"key":"10.1016\/j.anl.2020.08.017_bib0002","doi-asserted-by":"crossref","first-page":"76","DOI":"10.3109\/14992020903311388","article-title":"Prevalence and aetiology of congenitally deafblind people in Denmark","volume":"49","author":"Dammeyer","year":"2010","journal-title":"Int J Audiol"},{"key":"10.1016\/j.anl.2020.08.017_bib0003","doi-asserted-by":"crossref","first-page":"554","DOI":"10.1177\/1403494814544399","article-title":"Deafblindness:a review of the literature","volume":"42","author":"Dammeyer","year":"2014","journal-title":"Scand J Public Health"},{"key":"10.1016\/j.anl.2020.08.017_bib0004","doi-asserted-by":"crossref","first-page":"571","DOI":"10.1016\/j.ridd.2010.12.019","article-title":"Mental and behavioral disorders among people with congenital deafblindness","volume":"32","author":"Dammeyer","year":"2011","journal-title":"Res Dev Disabil"},{"key":"10.1016\/j.anl.2020.08.017_bib0005","doi-asserted-by":"crossref","first-page":"653","DOI":"10.1001\/archopht.116.5.653","article-title":"Age-specific prevalence and causes of blindness and visual impairment in an older population:the Rotterdam Study","volume":"116","author":"Klaver","year":"1998","journal-title":"Arch Ophthalmol"},{"key":"10.1016\/j.anl.2020.08.017_bib0006","doi-asserted-by":"crossref","first-page":"345","DOI":"10.1159\/000106478","article-title":"The complexity of age-related hearing impairment: contributing environmental and genetic factors","volume":"12","author":"Van Eyken","year":"2007","journal-title":"Audiol Neurootol"},{"key":"10.1016\/j.anl.2020.08.017_bib0007","doi-asserted-by":"crossref","first-page":"133","DOI":"10.1016\/S0165-5876(00)00395-5","article-title":"Changes in the aetiology of hearing impairment in deaf-blind pupils and deaf infant pupils at an institute for the deaf","volume":"55","author":"Admiraal","year":"2000","journal-title":"Int J Pediatr Otorhinolaryngol"},{"key":"10.1016\/j.anl.2020.08.017_bib0008","doi-asserted-by":"crossref","first-page":"306","DOI":"10.1002\/ajmg.a.30559","article-title":"Updated diagnostic criteria for CHARGE syndrome: a proposal","volume":"133A","author":"Verloes","year":"2005","journal-title":"Am J Med Genet A"},{"key":"10.1016\/j.anl.2020.08.017_bib0009","series-title":"GeneReviews [Internet]","article-title":"CHARGE Syndrome","author":"Lalani","year":"1993"},{"key":"10.1016\/j.anl.2020.08.017_bib0010","doi-asserted-by":"crossref","first-page":"334","DOI":"10.1136\/jmg.2010.087106","article-title":"CHD7 mutations and CHARGE syndrome: the clinical implications of an expanding phenotype","volume":"48","author":"Bergman","year":"2011","journal-title":"J Med Genet"},{"key":"10.1016\/j.anl.2020.08.017_bib0011","doi-asserted-by":"crossref","first-page":"306","DOI":"10.1136\/jmg.2005.036061","article-title":"CHARGE syndrome: the phenotypic spectrum of mutations in the CHD7 gene","volume":"43","author":"Jongmans","year":"2006","journal-title":"J Med Genet"},{"key":"10.1016\/j.anl.2020.08.017_bib0012","doi-asserted-by":"crossref","first-page":"410","DOI":"10.1016\/j.jpeds.2005.10.044","article-title":"Phenotypic spectrum of CHARGE syndrome with CHD7 mutations","volume":"148","author":"Aramaki","year":"2006","journal-title":"J Pediatr"},{"key":"10.1016\/j.anl.2020.08.017_bib0013","series-title":"Hereditary hearing loss and its syndromes","first-page":"267","article-title":"Genetic hearing loss associated with eye disorders","author":"Kimberling","year":"2013"},{"key":"10.1016\/j.anl.2020.08.017_bib0014","series-title":"GeneReviews [Internet]","article-title":"Usher Syndrome Type I","author":"Lentz","year":"1993"},{"key":"10.1016\/j.anl.2020.08.017_bib0015","series-title":"GeneReviews [Internet]","article-title":"Usher Syndrome Type II","author":"Lentz","year":"1993"},{"key":"10.1016\/j.anl.2020.08.017_bib0016","series-title":"USHER SYNDROME, type IIIA; ush3a","year":"2015"},{"key":"10.1016\/j.anl.2020.08.017_bib0017","series-title":"USHER SYNDROME, type IIIB; ush3b","year":"2019"},{"key":"10.1016\/j.anl.2020.08.017_bib0018","series-title":"Usher syndrome. genetics home reference [Internet]","year":"2020"},{"key":"10.1016\/j.anl.2020.08.017_bib0019","doi-asserted-by":"crossref","first-page":"2748","DOI":"10.1093\/hmg\/ddp210","article-title":"Usher syndrome IIIA gene clarin-1 is essential for hair cell function and associated neural activation","volume":"18","author":"Geng","year":"2009","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.anl.2020.08.017_bib0020","doi-asserted-by":"crossref","first-page":"3382","DOI":"10.1172\/JCI94351","article-title":"Clarin-1 gene transfer rescues auditory synaptopathy in model of Usher syndrome","volume":"128","author":"Dulon","year":"2018","journal-title":"J Clin Invest"},{"key":"10.1016\/j.anl.2020.08.017_bib0021","doi-asserted-by":"crossref","first-page":"767","DOI":"10.1136\/jmedgenet-2011-100262","article-title":"Allelic hierarchy of CDH23 mutations causing non-syndromic deafness DFNB12 or Usher syndrome USH1D in compound heterozygotes","volume":"48","author":"Schultz","year":"2011","journal-title":"J Med Genet"},{"key":"10.1016\/j.anl.2020.08.017_bib0022","first-page":"636","article-title":"Hearing and otologic disorders in children with Down syndrome","volume":"90","author":"Dahle","year":"1986","journal-title":"Am J Ment Defic"},{"key":"10.1016\/j.anl.2020.08.017_bib0023","doi-asserted-by":"crossref","first-page":"2113","DOI":"10.1097\/01.mlg.0000245034.77640.4f","article-title":"Inner ear dysplasia is common in children with Down syndrome (trisomy 21)","volume":"116","author":"Blaser","year":"2006","journal-title":"Laryngoscope"},{"key":"10.1016\/j.anl.2020.08.017_bib0024","series-title":"Down syndrome (Trisomy 21). statpearls [Internet]","author":"Akhtar","year":"2020"},{"key":"10.1016\/j.anl.2020.08.017_bib0025","series-title":"Nelson text book of pediatrics","first-page":"610","article-title":"Down syndromes and other abnormalities of chromosome number","author":"Lee","year":"2016"},{"key":"10.1016\/j.anl.2020.08.017_bib0026","series-title":"GeneReviews [Internet]","article-title":"Stickler syndrome","author":"Robin","year":"1993"},{"key":"10.1016\/j.anl.2020.08.017_bib0027","series-title":"Stickler syndrome, type I; STL1","year":"2017"},{"key":"10.1016\/j.anl.2020.08.017_bib0028","series-title":"Stickler syndrome, type II; STL2","year":"2011"},{"key":"10.1016\/j.anl.2020.08.017_bib0029","series-title":"Otospondylomegaepiphyseal dysplasia, autosomal dominant; osmeda","year":"2019"},{"key":"10.1016\/j.anl.2020.08.017_bib0030","series-title":"Stickler syndrome. genetics home reference [Internet]","year":"2020"},{"key":"10.1016\/j.anl.2020.08.017_bib0031","series-title":"Hereditary hearing loss and its syndromes","first-page":"267","article-title":"Genetic hearing loss associated with musculoskeletal disorders","author":"Toriello","year":"2013"},{"key":"10.1016\/j.anl.2020.08.017_bib0032","first-page":"216","article-title":"Hearing impairment in Stickler syndrome","volume":"61","author":"Admiraal","year":"2002","journal-title":"Adv Otorhinolaryngol"},{"key":"10.1016\/j.anl.2020.08.017_bib0033","doi-asserted-by":"crossref","first-page":"403","DOI":"10.1016\/j.preteyeres.2004.04.002","article-title":"Collagens and collagen-related matrix components in the human and mouse eye","volume":"23","author":"Ihanam\u00e4ki","year":"2004","journal-title":"Prog Retin Eye Res"},{"key":"10.1016\/j.anl.2020.08.017_bib0034","doi-asserted-by":"crossref","first-page":"297","DOI":"10.1016\/j.exer.2005.11.027","article-title":"A mouse model for Stickler's syndrome: ocular phenotype of mice carrying a targeted heterozygous inactivation of type II (pro) collagen gene (Col2a1)","volume":"83","author":"Kaarniranta","year":"2006","journal-title":"Exp Eye Res"},{"key":"10.1016\/j.anl.2020.08.017_bib0035","doi-asserted-by":"crossref","first-page":"59","DOI":"10.1016\/0378-5955(94)90127-9","article-title":"Expression and localization of COL2A1 mRNA and type II collagen in human fetal cochlea","volume":"79","author":"Khetarpal","year":"1994","journal-title":"Hear Res"},{"key":"10.1016\/j.anl.2020.08.017_bib0036","doi-asserted-by":"crossref","first-page":"242","DOI":"10.1080\/00016480410016162","article-title":"Col11a1 and Col11a2 mRNA expression in the developing mouse cochlea: implications for the correlation of hearing loss phenotype with mutant type XI collagen genotype","volume":"124","author":"Shpargel","year":"2004","journal-title":"Acta Otolaryngol"},{"key":"10.1016\/j.anl.2020.08.017_bib0037","unstructured":"Online Mendelian Inheritance in Man, OMIM. Dandy-Walker syndrome;dws. Baltimore (MD): Johns Hopkins University. MIM Number: 220200 [May 22, 2013]. https:\/\/www.omim.org\/entry\/220200. [accessed May 15, 2020]."},{"key":"10.1016\/j.anl.2020.08.017_bib0038","series-title":"Dandy-Walker malformation. genetics home reference [Internet]","year":"2020"},{"key":"10.1016\/j.anl.2020.08.017_bib0039","series-title":"Nelson text book of pediatrics","first-page":"610","article-title":"Congenital anomalies of the central nervous system","author":"Kinsman","year":"2016"},{"key":"10.1016\/j.anl.2020.08.017_bib0040","series-title":"Merritt's neurology","first-page":"1130","article-title":"Nervous system formation and malformation","author":"Clark","year":"2016"},{"key":"10.1016\/j.anl.2020.08.017_bib0041","doi-asserted-by":"crossref","first-page":"406","DOI":"10.7162\/S1809-97772012000300018","article-title":"Cochlear implantation in patient with Dandy-walker syndrome","volume":"16","author":"de Oliveira","year":"2012","journal-title":"Int Arch Otorhinolaryngol"},{"key":"10.1016\/j.anl.2020.08.017_bib0042","doi-asserted-by":"crossref","first-page":"365","DOI":"10.1007\/s00405-017-4832-0","article-title":"The outcome of cochlear implantation among children with genetic syndromes","volume":"275","author":"Alzhrani","year":"2018","journal-title":"Eur Arch Otorhinolaryngol"},{"key":"10.1016\/j.anl.2020.08.017_bib0043","doi-asserted-by":"crossref","first-page":"292","DOI":"10.1016\/S1875-9572(10)60056-3","article-title":"Ocular findings in a case of trisomy 18 with variant of Dandy-Walker syndrome","volume":"51","author":"Lim","year":"2010","journal-title":"Pediatr Neonatol"},{"key":"10.1016\/j.anl.2020.08.017_bib0044","doi-asserted-by":"crossref","first-page":"37","DOI":"10.1080\/13816810590927217","article-title":"Multiple congenital malformations including severe eye anomalies and abnormal cerebellar development with Dandy-Walker malformation in a girl with partial trisomy 3q","volume":"26","author":"de Azevedo Moreira","year":"2005","journal-title":"Ophthalmic Genet"},{"key":"10.1016\/j.anl.2020.08.017_bib0045","doi-asserted-by":"crossref","first-page":"640","DOI":"10.2176\/nmc.ra.2015-0075","article-title":"Molecular biology of pediatric hydrocephalus and hydrocephalus-related diseases","volume":"55","author":"Yamasaki","year":"2015","journal-title":"Neurol Med Chir (Tokyo)"},{"key":"10.1016\/j.anl.2020.08.017_bib0046","doi-asserted-by":"crossref","first-page":"1053","DOI":"10.1038\/ng1420","article-title":"Heterozygous deletion of the linked genes ZIC1 and ZIC4 is involved in Dandy-Walker malformation","volume":"36","author":"Grinberg","year":"2004","journal-title":"Nat Genet"},{"key":"10.1016\/j.anl.2020.08.017_bib0047","doi-asserted-by":"crossref","first-page":"1037","DOI":"10.1038\/ng.422","article-title":"FOXC1 is required for normal cerebellar development and is a major contributor to chromosome 6p25.3 Dandy-Walker malformation","volume":"41","author":"Aldinger","year":"2009","journal-title":"Nat Genet"},{"key":"10.1016\/j.anl.2020.08.017_bib0048","article-title":"Progress in treating inherited retinal diseases: early subretinal gene therapy clinical trials and candidates for future initiatives","author":"Garafalo","year":"2019","journal-title":"Prog Retin Eye Res"},{"key":"10.1016\/j.anl.2020.08.017_bib0049","doi-asserted-by":"crossref","first-page":"R65","DOI":"10.1093\/hmg\/ddz129","article-title":"Gene therapy for hearing loss","volume":"28","author":"Omichi","year":"2019","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.anl.2020.08.017_bib0050","doi-asserted-by":"crossref","first-page":"e94272","DOI":"10.1371\/journal.pone.0094272","article-title":"EIAV-based retinal gene therapy in the shaker1 mouse model for usher syndrome type 1B: development of UshStat","volume":"9","author":"Zallocchi","year":"2014","journal-title":"PLoS ONE"},{"key":"10.1016\/j.anl.2020.08.017_bib0051","doi-asserted-by":"crossref","first-page":"264","DOI":"10.1038\/nbt.3801","article-title":"Gene therapy restores auditory and vestibular function in a mouse model of Usher syndrome type 1c","volume":"35","author":"Pan","year":"2017","journal-title":"Nat Biotechnol"},{"key":"10.1016\/j.anl.2020.08.017_bib0052","doi-asserted-by":"crossref","first-page":"780","DOI":"10.1016\/j.ymthe.2017.01.007","article-title":"Gene therapy restores balance and auditory functions in a mouse model of Usher syndrome","volume":"25","author":"Isgrig","year":"2017","journal-title":"Mol Ther"},{"key":"10.1016\/j.anl.2020.08.017_sbref0053","series-title":"Japan agency for medical research and development","year":"2020"}],"container-title":["Auris Nasus Larynx"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0385814620302194?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0385814620302194?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2026,5,14]],"date-time":"2026-05-14T09:54:44Z","timestamp":1778752484000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0385814620302194"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,4]]},"references-count":53,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2021,4]]}},"alternative-id":["S0385814620302194"],"URL":"https:\/\/doi.org\/10.1016\/j.anl.2020.08.017","relation":{},"ISSN":["0385-8146"],"issn-type":[{"value":"0385-8146","type":"print"}],"subject":[],"published":{"date-parts":[[2021,4]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Clinical genetics, practice, and research of deafblindness: From uncollected experiences to the national registry in Japan","name":"articletitle","label":"Article Title"},{"value":"Auris Nasus Larynx","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.anl.2020.08.017","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2020 Oto-Rhino-Laryngological Society of Japan Inc. Published by Elsevier B.V. All rights reserved.","name":"copyright","label":"Copyright"}]}}