{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,1]],"date-time":"2026-05-01T02:56:30Z","timestamp":1777604190447,"version":"3.51.4"},"reference-count":3,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2023,3,3]],"date-time":"2023-03-03T00:00:00Z","timestamp":1677801600000},"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":["Aust J Dermatology"],"published-print":{"date-parts":[[2023,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We herein report a case of a 4\u2010year\u2010old Filipino girl initially seen through online consultation from a general physician. She was born to a 22\u2010year\u2010old primigravid mother, with no birth complications nor a history of consanguinity in the family. During the 1st month of life, she developed hyperpigmented macules over the face, neck, upper back, and limbs, which were exacerbated by sun exposure. At 2\u2009years old, she developed a solitary erythematous papule on the nasal area, which gradually enlarged within one year and developed into an exophytic ulcerating tumor extending to the right supra\u2010alar crease. Xeroderma pigmentosum and squamous cell carcinoma were confirmed by whole\u2010exome sequencing and skin biopsy, respectively.<\/jats:p>","DOI":"10.1111\/ajd.14015","type":"journal-article","created":{"date-parts":[[2023,3,3]],"date-time":"2023-03-03T12:38:28Z","timestamp":1677847108000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["A novel <scp>XPA<\/scp> splice\u2010site mutation identified in a 4\u2010year\u2010old Filipino girl with xeroderma pigmentosum"],"prefix":"10.1111","volume":"64","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-1719-1459","authenticated-orcid":false,"given":"Haider H.","family":"Reyes","sequence":"first","affiliation":[{"name":"Department of Dermatology Southern Philippines Medical Center  Davao City Philippines"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yu\u2010Chen","family":"Lin","sequence":"additional","affiliation":[{"name":"Department of Dermatology, National Cheng Kung University Hospital, College of Medicine National Cheng Kung University  Tainan Taiwan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chao\u2010Kai","family":"Hsu","sequence":"additional","affiliation":[{"name":"Department of Dermatology, National Cheng Kung University Hospital, College of Medicine National Cheng Kung University  Tainan Taiwan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8956-9807","authenticated-orcid":false,"given":"Bryan Edgar K.","family":"Guevara","sequence":"additional","affiliation":[{"name":"Department of Dermatology Southern Philippines Medical Center  Davao City Philippines"},{"name":"Brokenshire College School of Medicine  Davao City Philippines"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2023,3,3]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.mrrev.2014.12.002"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.gt.3300495"},{"key":"e_1_2_8_4_1","volume-title":"GeneReviews\u00ae [Internet]","author":"Kraemer KH","year":"1993"}],"container-title":["Australasian Journal of Dermatology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/ajd.14015","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1111\/ajd.14015","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/ajd.14015","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,21]],"date-time":"2023-08-21T17:11:28Z","timestamp":1692637888000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/ajd.14015"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,3,3]]},"references-count":3,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2023,5]]}},"alternative-id":["10.1111\/ajd.14015"],"URL":"https:\/\/doi.org\/10.1111\/ajd.14015","archive":["Portico"],"relation":{},"ISSN":["0004-8380","1440-0960"],"issn-type":[{"value":"0004-8380","type":"print"},{"value":"1440-0960","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,3,3]]},"assertion":[{"value":"2022-12-29","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-02-11","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-03-03","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}