{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,7]],"date-time":"2025-11-07T19:12:50Z","timestamp":1762542770394,"version":"3.37.3"},"reference-count":6,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2017,12,22]],"date-time":"2017-12-22T00:00:00Z","timestamp":1513900800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["The Journal of Dermatology"],"published-print":{"date-parts":[[2018,4]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Sch\u00f6pf\u2013Schulz\u2013Passarge syndrome (<jats:styled-content style=\"fixed-case\">SSPS<\/jats:styled-content>) is a rare ectodermal dysplasia characterized by cysts of the eyelids, hypodontia, hypotrichosis, palmoplantar keratosis and onychodystrophy, and it is not common in Asia according to the published work. This autosomal recessive disorder was believed to result from mutations in the <jats:italic><jats:styled-content style=\"fixed-case\">WNT<\/jats:styled-content>10A<\/jats:italic> gene. We report a 54\u2010year\u2010old Taiwanese man with <jats:styled-content style=\"fixed-case\">SSPS<\/jats:styled-content> resulted from a homozygous mutation (p.Arg104Cys) in <jats:italic><jats:styled-content style=\"fixed-case\">WNT<\/jats:styled-content>10A<\/jats:italic>. This mutation has not been reported in odonto\u2010onycho\u2010dermal dysplasia but was demonstrated to link with dental abnormalities. This report implies the significance of <jats:italic><jats:styled-content style=\"fixed-case\">WNT<\/jats:styled-content>10A<\/jats:italic> gene mutation in ectodermal dysplasia and highlights the clinical features of <jats:styled-content style=\"fixed-case\">SSPS<\/jats:styled-content>.<\/jats:p>","DOI":"10.1111\/1346-8138.14201","type":"journal-article","created":{"date-parts":[[2017,12,23]],"date-time":"2017-12-23T20:44:24Z","timestamp":1514061864000},"page":"475-478","source":"Crossref","is-referenced-by-count":5,"title":["Case report of Sch\u00f6pf\u2013Schulz\u2013Passarge syndrome resulting from a missense mutation, p.Arg104Cys, in <i><scp>WNT<\/scp>10A<\/i>"],"prefix":"10.1111","volume":"45","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-5037-0585","authenticated-orcid":false,"given":"Tzu\u2010Chien","family":"Hsu","sequence":"first","affiliation":[{"name":"Department of Dermatology National Cheng Kung University College of Medicine and Hospital Tainan Taiwan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Julia Yu\u2010Yun","family":"Lee","sequence":"additional","affiliation":[{"name":"Department of Dermatology National Cheng Kung University College of Medicine and Hospital Tainan Taiwan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mark Ming\u2010Long","family":"Hsu","sequence":"additional","affiliation":[{"name":"Department of Dermatology National Cheng Kung University College of Medicine and Hospital Tainan Taiwan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sheau\u2010Chiou","family":"Chao","sequence":"additional","affiliation":[{"name":"Department of Dermatology National Cheng Kung University College of Medicine and Hospital Tainan Taiwan"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2017,12,22]]},"reference":[{"key":"e_1_2_6_2_1","first-page":"219","article-title":"Syndrome of cystic eyelids, palmo\u2010plantar keratosis, hypodontia and hypotrichosis as a possible autosomal recessive trait","volume":"7","author":"Schopf E","year":"1971","journal-title":"Birth Defects Orig Artic Ser"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2009.06.001"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1440-0960.2011.00788.x"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1086\/520064"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/mgg3.111"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2009.81"}],"container-title":["The Journal of Dermatology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2F1346-8138.14201","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/1346-8138.14201","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,24]],"date-time":"2023-09-24T01:09:28Z","timestamp":1695517768000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/1346-8138.14201"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,12,22]]},"references-count":6,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2018,4]]}},"alternative-id":["10.1111\/1346-8138.14201"],"URL":"https:\/\/doi.org\/10.1111\/1346-8138.14201","archive":["Portico"],"relation":{},"ISSN":["0385-2407","1346-8138"],"issn-type":[{"type":"print","value":"0385-2407"},{"type":"electronic","value":"1346-8138"}],"subject":[],"published":{"date-parts":[[2017,12,22]]}}}