{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,8]],"date-time":"2026-02-08T03:16:27Z","timestamp":1770520587151,"version":"3.49.0"},"reference-count":19,"publisher":"Informa UK Limited","license":[{"start":{"date-parts":[[2026,2,1]],"date-time":"2026-02-01T00:00:00Z","timestamp":1769904000000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/3.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IMCRJ"],"DOI":"10.2147\/imcrj.s563988","type":"journal-article","created":{"date-parts":[[2026,2,7]],"date-time":"2026-02-07T05:15:12Z","timestamp":1770441312000},"page":"1-5","source":"Crossref","is-referenced-by-count":0,"title":["E114G de Novo Mutation in GJB2 Gene in a Chinese Patient with Classical Vohwinkel Syndrome"],"prefix":"10.2147","volume":"Volume 19","author":[{"given":"Bin","family":"Chen","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xiaoqing","family":"Xu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fusheng","family":"Zhou","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"301","published-online":{"date-parts":[[2026,2]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","first-page":"1237","DOI":"10.1093\/hmg\/8.7.1237","volume":"8","author":"Maestrini","year":"1999","journal-title":"Hum Mol Genet"},{"key":"ref2","doi-asserted-by":"publisher","first-page":"154","DOI":"10.1111\/1346-8138.14727","volume":"46","author":"Xie","year":"2019","journal-title":"J Dermatol"},{"key":"ref3","first-page":"178","volume":"93","author":"Kuraoka","year":"2002","journal-title":"Fukuoka Igaku Zasshi"},{"key":"ref4","doi-asserted-by":"publisher","first-page":"13975","DOI":"10.1038\/s41598-018-32405-2","volume":"8","author":"Moscato","year":"2018","journal-title":"Sci Rep"},{"key":"ref5","doi-asserted-by":"publisher","first-page":"a033233","DOI":"10.1101\/cshperspect.a033233","volume":"9","author":"Mammano","year":"2019","journal-title":"Cold Spring Harb Perspect Med"},{"key":"ref6","doi-asserted-by":"publisher","first-page":"1243","DOI":"10.1172\/JCI27186","volume":"116","author":"Djalilian","year":"2006","journal-title":"J Clin Invest"},{"key":"ref7","doi-asserted-by":"publisher","first-page":"e35","DOI":"10.1017\/S1462399409001276","volume":"11","author":"Lee","year":"2009","journal-title":"Expert Rev Mol Med"},{"key":"ref8","doi-asserted-by":"publisher","first-page":"192","DOI":"10.1111\/ijd.12062","volume":"53","author":"Avshalumova","year":"2014","journal-title":"Int J Dermatol"},{"key":"ref9","doi-asserted-by":"publisher","first-page":"945","DOI":"10.1086\/497996","volume":"77","author":"Snoeckx","year":"2005","journal-title":"Am J Hum Genet"},{"key":"ref10","doi-asserted-by":"publisher","first-page":"640","DOI":"10.4103\/0378-6323.100595","volume":"78","author":"Qiu","year":"2012","journal-title":"Indian J Dermatol Venereol Leprol"},{"key":"ref11","doi-asserted-by":"publisher","first-page":"503","DOI":"10.2340\/00015555-0164","volume":"86","author":"Bondeson","year":"2006","journal-title":"Acta Derm Venereol"},{"key":"ref12","doi-asserted-by":"publisher","first-page":"161","DOI":"10.1136\/jmg.2007.052332","volume":"45","author":"de Zwart-Storm","year":"2008","journal-title":"J Med Genet"},{"key":"ref13","doi-asserted-by":"publisher","first-page":"60","DOI":"10.1002\/humu.9350","volume":"26","author":"Snoeckx","year":"2005","journal-title":"Hum Mutat"},{"key":"ref14","doi-asserted-by":"publisher","first-page":"282","DOI":"10.1002\/ajmg.a.30822","volume":"136","author":"Alexandrino","year":"2005","journal-title":"Am J Med Genet A"},{"key":"ref15","doi-asserted-by":"publisher","DOI":"10.2106\/JBJS.CC.24.00251","volume":"14","author":"Bonvillain","year":"2024","journal-title":"JBJS Case Connect"},{"key":"ref16","doi-asserted-by":"publisher","first-page":"169","DOI":"10.1111\/jdv.12672","volume":"30","author":"Wang","year":"2016","journal-title":"J Eur Acad Dermatol Venereol"},{"key":"ref17","doi-asserted-by":"publisher","first-page":"e12516","DOI":"10.1111\/dth.12516","volume":"30","author":"Behera","year":"2017","journal-title":"Dermatol Ther"},{"key":"ref18","doi-asserted-by":"publisher","first-page":"665","DOI":"10.1111\/ddg.13254","volume":"15","author":"Nico","year":"2017","journal-title":"J Dtsch Dermatol Ges"},{"key":"ref19","doi-asserted-by":"publisher","first-page":"152010","DOI":"10.1016\/j.acthis.2023.152010","volume":"125","author":"Ling","year":"2023","journal-title":"Acta Histochem"}],"container-title":["International Medical Case Reports Journal"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.dovepress.com\/article\/download\/111762","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.dovepress.com\/article\/download\/111762","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,2,7]],"date-time":"2026-02-07T05:15:13Z","timestamp":1770441313000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.dovepress.com\/e114g-de-novo-mutation-in-gjb2-gene-in-a-chinese-patient-with-classica-peer-reviewed-fulltext-article-IMCRJ"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,2]]},"references-count":19,"URL":"https:\/\/doi.org\/10.2147\/imcrj.s563988","relation":{},"ISSN":["1179-142X"],"issn-type":[{"value":"1179-142X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,2]]}}}