{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,9]],"date-time":"2026-10-09T08:57:55Z","timestamp":1791536275031,"version":"4.3.4"},"reference-count":8,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2020,4,28]],"date-time":"2020-04-28T00:00:00Z","timestamp":1588032000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100004912","name":"Sichuan University","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100004912","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["The Journal of Dermatology"],"published-print":{"date-parts":[[2020,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Ectodermal dysplasia\u2013skin fragility (EDSF) syndrome is a rare autosomal recessive disease characterized by skin fragility, chronic cheilitis, palmoplantar keratoderma, abnormal hair growth and nail dystrophy. EDSF syndrome is caused by mutations in the <jats:italic>PKP1<\/jats:italic> gene encoding plakophilin\u20101, which result in desmosomal abnormality and poor intercellular cohesion between epidermal cells. Herein, we report a novel homozygous deletion of the <jats:italic>PKP1<\/jats:italic> gene in a Chinese boy with EDSF syndrome. Our study expands the database on <jats:italic>PKP1<\/jats:italic> mutations and emphasizes the key role played by PKP1 in the structure and function of the epidermal desmosomes. In addition, we describe the ultrastructural changes of the curly hair in patients with EDSF syndrome for the first time.<\/jats:p>","DOI":"10.1111\/1346-8138.15364","type":"journal-article","created":{"date-parts":[[2020,4,29]],"date-time":"2020-04-29T01:09:57Z","timestamp":1588122597000},"page":"779-781","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Novel homozygous deletion of the plakophilin\u20101 gene in a Chinese patient with ectodermal dysplasia\u2013skin fragility syndrome"],"prefix":"10.1111","volume":"47","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-0054-3289","authenticated-orcid":false,"given":"Bensen","family":"Sun","sequence":"first","affiliation":[{"name":"Department of Dermatology West China Hospital of Sichuan University Chengdu China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xin","family":"Ran","sequence":"additional","affiliation":[{"name":"Department of Dermatology West China Hospital of Sichuan University Chengdu China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9259-8083","authenticated-orcid":false,"given":"Pengfei","family":"Wen","sequence":"additional","affiliation":[{"name":"Department of Dermatology West China Hospital of Sichuan University Chengdu China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lian","family":"Liu","sequence":"additional","affiliation":[{"name":"Department of Dermatology West China Hospital of Sichuan University Chengdu China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xi","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Dermatology West China Hospital of Sichuan University Chengdu China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mengmeng","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Dermatology West China Hospital of Sichuan University Chengdu China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7786-1453","authenticated-orcid":false,"given":"Sheng","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Dermatology West China Hospital of Sichuan University Chengdu China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2020,4,28]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1097-240"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00018-019-03083-8"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejcb.2004.12.020"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.4103\/0378-6323.82415"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaad.2014.01.903"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1440-0960.2011.00846.x"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.det.2009.10.014"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1111\/ced.12109"}],"container-title":["The Journal of Dermatology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/1346-8138.15364","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1111\/1346-8138.15364","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/1346-8138.15364","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,3]],"date-time":"2023-09-03T13:04:28Z","timestamp":1693746268000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/1346-8138.15364"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,4,28]]},"references-count":8,"journal-issue":{"issue":"7","published-print":{"date-parts":[[2020,7]]}},"alternative-id":["10.1111\/1346-8138.15364"],"URL":"https:\/\/doi.org\/10.1111\/1346-8138.15364","archive":["Portico"],"relation":{},"ISSN":["0385-2407","1346-8138"],"issn-type":[{"value":"0385-2407","type":"print"},{"value":"1346-8138","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,4,28]]},"assertion":[{"value":"2020-01-27","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2020-03-29","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2020-04-28","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}