{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T00:39:48Z","timestamp":1787013588786,"version":"build-2736575974"},"reference-count":15,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2018,12,19]],"date-time":"2018-12-19T00:00:00Z","timestamp":1545177600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"The Medical Innovation Foundation of Huzhou in China","award":["2016GYB11"],"award-info":[{"award-number":["2016GYB11"]}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["The Journal of Dermatology"],"published-print":{"date-parts":[[2019,2]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Vohwinkel syndrome (\n                    <jats:styled-content style=\"fixed-case\">VS<\/jats:styled-content>\n                    ) is a rare autosomal dominant condition, also known as mutilating palmoplantar keratoderma accompanied by sensorineural deafness. The\n                    <jats:styled-content style=\"fixed-case\">LOR<\/jats:styled-content>\n                    and GJB2 genes are reported to be responsible for\n                    <jats:styled-content style=\"fixed-case\">VS<\/jats:styled-content>\n                    . The GJB2 gene encodes connexin 26, a component of intercellular gap junctions expressed in various tissues. We report the case of a 31\u2010year\u2010old Chinese woman with classic\n                    <jats:styled-content style=\"fixed-case\">VS<\/jats:styled-content>\n                    characterized by sensorineural deafness and mutilating palmoplantar keratoderma. Further genetic studies demonstrated a nucleotide change (c.175G&gt;A) in the GJB2 gene, leading to an amino acid alteration (G59S). This identical missense mutation (G59S) has also been reported in a patient with Bart\u2013Pumphrey syndrome. Together with our findings and previous studies, we conclude that the identical mutation (G59S) in the GJB2 gene contributes to various manifestations.\n                  <\/jats:p>","DOI":"10.1111\/1346-8138.14727","type":"journal-article","created":{"date-parts":[[2018,12,19]],"date-time":"2018-12-19T03:43:46Z","timestamp":1545191026000},"page":"154-157","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["G59S mutation in the\n                    <scp>GJB<\/scp>\n                    2 gene in a Chinese family with classic Vohwinkel syndrome"],"prefix":"10.1111","volume":"46","author":[{"given":"Ming\u2010xing","family":"Xie","sequence":"first","affiliation":[{"name":"Department of Dermatology Changxing Hospital Huzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wei\u2010ping","family":"Yang","sequence":"additional","affiliation":[{"name":"Department of Stomatology The First Affiliated Hospital of Huzhou University Huzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hao\u2010jie","family":"Luo","sequence":"additional","affiliation":[{"name":"Department of Dermatology The First Affiliated Hospital of Huzhou University Huzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ferina","family":"Ismail","sequence":"additional","affiliation":[{"name":"Department of Dermatology The Royal London Hospital London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yang\u2010yang","family":"Hao","sequence":"additional","affiliation":[{"name":"Department of Dermatology The First Affiliated Hospital of Huzhou University Huzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3785-8778","authenticated-orcid":false,"given":"Jian\u2010qiang","family":"Yang","sequence":"additional","affiliation":[{"name":"Department of Dermatology The First Affiliated Hospital of Huzhou 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