{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,10,14]],"date-time":"2023-10-14T10:17:55Z","timestamp":1697278675050},"reference-count":12,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2014,6,25]],"date-time":"2014-06-25T00:00:00Z","timestamp":1403654400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Int J Dermatology"],"published-print":{"date-parts":[[2014,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Objective<\/jats:title><jats:p>Progressive symmetric erythrokeratodermia (<jats:styled-content style=\"fixed-case\">PSEK<\/jats:styled-content>) is characterized by symmetric and growing erythematous hyperkeratotic patches over the body shortly after birth, particularly trunk and limbs, the buttocks, and the face, sometimes together with palmoplantar keratoderma (<jats:styled-content style=\"fixed-case\">PPK<\/jats:styled-content>). The <jats:italic><jats:styled-content style=\"fixed-case\">GJB<\/jats:styled-content>2<\/jats:italic>,<jats:italic> <jats:styled-content style=\"fixed-case\">GJB<\/jats:styled-content>3<\/jats:italic>,<jats:italic> <jats:styled-content style=\"fixed-case\">GJB<\/jats:styled-content>4<\/jats:italic>,<jats:italic> <jats:styled-content style=\"fixed-case\">GJB<\/jats:styled-content>6<\/jats:italic>,<jats:italic> <jats:styled-content style=\"fixed-case\">ARS<\/jats:styled-content><\/jats:italic> (Component B), and <jats:italic><jats:styled-content style=\"fixed-case\">LOR<\/jats:styled-content><\/jats:italic> gene mutation might contribute to <jats:styled-content style=\"fixed-case\">PSEK<\/jats:styled-content> manifestation. This study aimed to identify sequence alteration of these genes in a Chinese <jats:styled-content style=\"fixed-case\">PSEK<\/jats:styled-content> patient with pseudoainhum.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Genomic <jats:styled-content style=\"fixed-case\">DNA<\/jats:styled-content> was purified from the patient's peripheral blood. Mutation analysis of target genes was performed by direct sequencing using <jats:styled-content style=\"fixed-case\">ABI<\/jats:styled-content> 3730 sequencer<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>No exonic mutations was identified in the aforementioned genes.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>The result underlines the genetic heterogeneity of <jats:styled-content style=\"fixed-case\">PSEK<\/jats:styled-content> and other related erythrokeratodermas.<\/jats:p><\/jats:sec>","DOI":"10.1111\/ijd.12494","type":"journal-article","created":{"date-parts":[[2014,6,25]],"date-time":"2014-06-25T06:53:00Z","timestamp":1403679180000},"page":"1111-1113","update-policy":"http:\/\/dx.doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["No exonic mutations at <scp>GJB<\/scp>2, <scp>GJB<\/scp>3, <scp>GJB<\/scp>4, <scp>GJB<\/scp>6, <scp>ARS<\/scp> (Component B), and <scp>LOR<\/scp> genes responsible for a <scp>C<\/scp>hinese patient affected by progressive symmetric erythrokeratodermia with pseudoainhum"],"prefix":"10.1111","volume":"53","author":[{"given":"Fusheng","family":"Zhou","sequence":"first","affiliation":[{"name":"Institute of Dermatology and Department of Dermatology at No. 1 Hospital Anhui Medical University Hefei Anhui China"},{"name":"Department of Dermatology and Venereology Anhui Medical University Hefei Anhui China"},{"name":"State Key Laboratory of Dermatology Incubation Ministry of Science and Technology Hefei Anhui China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hongyang","family":"Fu","sequence":"additional","affiliation":[{"name":"Institute of Dermatology and Department of Dermatology at No. 1 Hospital Anhui Medical University Hefei Anhui China"},{"name":"Department of Dermatology and Venereology Anhui Medical University Hefei Anhui China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Linghua","family":"Liu","sequence":"additional","affiliation":[{"name":"Institute of Dermatology and Department of Dermatology at No. 1 Hospital Anhui Medical University Hefei Anhui China"},{"name":"Department of Dermatology and Venereology Anhui Medical University Hefei Anhui China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yong","family":"Cui","sequence":"additional","affiliation":[{"name":"Institute of Dermatology and Department of Dermatology at No. 1 Hospital Anhui Medical University Hefei Anhui China"},{"name":"Department of Dermatology and Venereology Anhui Medical University Hefei Anhui China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zhengzhong","family":"Zhang","sequence":"additional","affiliation":[{"name":"Department of Dermatology the Affiliated Hospital of North Sichuan Medical College Nanchong China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ruixue","family":"Chang","sequence":"additional","affiliation":[{"name":"Institute of Dermatology and Department of Dermatology at No. 1 Hospital Anhui Medical University Hefei Anhui China"},{"name":"Department of Dermatology and Venereology Anhui Medical University Hefei Anhui China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zhen","family":"Yue","sequence":"additional","affiliation":[{"name":"Institute of Dermatology and Department of Dermatology at No. 1 Hospital Anhui Medical University Hefei Anhui China"},{"name":"Department of Dermatology and Venereology Anhui Medical University Hefei Anhui China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sen","family":"Yang","sequence":"additional","affiliation":[{"name":"Institute of Dermatology and Department of Dermatology at No. 1 Hospital Anhui Medical University Hefei Anhui China"},{"name":"Department of Dermatology and Venereology Anhui Medical University Hefei Anhui China"},{"name":"State Key Laboratory of Dermatology Incubation Ministry of Science and Technology Hefei Anhui China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xuejun","family":"Zhang","sequence":"additional","affiliation":[{"name":"Institute of Dermatology and Department of Dermatology at No. 1 Hospital Anhui Medical University Hefei Anhui China"},{"name":"Department of Dermatology and Venereology Anhui Medical University Hefei Anhui China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2014,6,25]]},"reference":[{"key":"e_1_2_4_2_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2133.1991.tb00632.x"},{"key":"e_1_2_4_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32744"},{"key":"e_1_2_4_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/3840"},{"key":"e_1_2_4_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0002-9297(07)62957-7"},{"key":"e_1_2_4_6_1","first-page":"738","article-title":"[Pseudo\u2010ainhum in Vohwinkel disease. 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