{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,31]],"date-time":"2026-01-31T08:32:36Z","timestamp":1769848356054,"version":"3.49.0"},"reference-count":15,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2009,1,2]],"date-time":"2009-01-02T00:00:00Z","timestamp":1230854400000},"content-version":"vor","delay-in-days":885,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["The Laryngoscope"],"published-print":{"date-parts":[[2006,8]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p><jats:bold>Objective:<\/jats:bold> The objective of this study was to characterize the temporal bone phenotype associated with a mutation of <jats:italic>GJB2<\/jats:italic> (encoding connexin 26).<\/jats:p><jats:p><jats:bold>Study Design:<\/jats:bold> The authors conducted correlative clinical, molecular genetic, and postmortem histopathologic analysis.<\/jats:p><jats:p><jats:bold>Methods:<\/jats:bold> The study subject was a male infant with keratitis\u2013ichthyosis\u2013deafness (KID) syndrome. We performed a nucleotide sequence analysis of <jats:italic>GJB2<\/jats:italic> and a histopathologic analysis of the temporal bones.<\/jats:p><jats:p><jats:bold>Results:<\/jats:bold> The subject was heterozygous for G45E, a previously reported KID syndrome mutation of <jats:italic>GJB2<\/jats:italic>. The primary inner ear abnormality was dysplasia of the cochlear and saccular neuroepithelium.<\/jats:p><jats:p><jats:bold>Conclusions:<\/jats:bold> GJB2 mutations can cause deafness in KID syndrome, and possibly in other <jats:italic>GJB2<\/jats:italic> mutant phenotypes, by disrupting cochlear differentiation.<\/jats:p>","DOI":"10.1097\/01.mlg.0000224549.75161.ca","type":"journal-article","created":{"date-parts":[[2006,8,2]],"date-time":"2006-08-02T20:02:30Z","timestamp":1154548950000},"page":"1404-1408","source":"Crossref","is-referenced-by-count":40,"title":["Cochleosaccular Dysplasia Associated With a Connexin 26 Mutation in Keratitis\u2013Ichthyosis\u2013Deafness Syndrome"],"prefix":"10.1002","volume":"116","author":[{"given":"Andrew J.","family":"Griffith","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yandan","family":"Yang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shannon P.","family":"Pryor","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hong\u2010Joon","family":"Park","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ethylin Wang","family":"Jabs","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"suffix":"Jr","given":"Joseph B.","family":"Nadol","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Laura J.","family":"Russell","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Daniel I.","family":"Wasserman","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gabriele","family":"Richard","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Joe C.","family":"Adams","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Saumil N.","family":"Merchant","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2009,1,2]]},"reference":[{"key":"e_1_2_7_2_2","doi-asserted-by":"publisher","DOI":"10.1146\/annurev.genom.4.070802.110347"},{"key":"e_1_2_7_3_2","doi-asserted-by":"publisher","DOI":"10.1086\/339986"},{"key":"e_1_2_7_4_2","doi-asserted-by":"publisher","DOI":"10.1097\/00005537-200202000-00014"},{"key":"e_1_2_7_5_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddg116"},{"key":"e_1_2_7_6_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0960-9822(02)00904-1"},{"key":"e_1_2_7_7_2","doi-asserted-by":"publisher","DOI":"10.1097\/00005537-200002010-00016"},{"key":"e_1_2_7_8_2","doi-asserted-by":"publisher","DOI":"10.1097\/00129492-200209000-00030"},{"key":"e_1_2_7_9_2","doi-asserted-by":"publisher","DOI":"10.1097\/00000372-199302000-00012"},{"key":"e_1_2_7_10_2","doi-asserted-by":"publisher","DOI":"10.1001\/archotol.1971.00770060100013"},{"key":"e_1_2_7_11_2","doi-asserted-by":"publisher","DOI":"10.1177\/000348949210100507"},{"key":"e_1_2_7_12_2","doi-asserted-by":"publisher","DOI":"10.1046\/j.1525-1470.2002.00075.x"},{"key":"e_1_2_7_13_2","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa012052"},{"key":"e_1_2_7_14_2","volume-title":"Pathology of the Ear.","author":"Schuknecht HF","year":"1993"},{"key":"e_1_2_7_15_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30515"},{"key":"e_1_2_7_16_2","doi-asserted-by":"publisher","DOI":"10.1007\/s10038-004-0223-7"}],"container-title":["The Laryngoscope"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1097%2F01.mlg.0000224549.75161.ca","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1097\/01.mlg.0000224549.75161.ca","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,9]],"date-time":"2023-10-09T20:06:15Z","timestamp":1696881975000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1097\/01.mlg.0000224549.75161.ca"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2006,8]]},"references-count":15,"journal-issue":{"issue":"8","published-print":{"date-parts":[[2006,8]]}},"alternative-id":["10.1097\/01.mlg.0000224549.75161.ca"],"URL":"https:\/\/doi.org\/10.1097\/01.mlg.0000224549.75161.ca","archive":["Portico"],"relation":{},"ISSN":["0023-852X","1531-4995"],"issn-type":[{"value":"0023-852X","type":"print"},{"value":"1531-4995","type":"electronic"}],"subject":[],"published":{"date-parts":[[2006,8]]}}}