{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T00:43:29Z","timestamp":1787013809839,"version":"build-2736575974"},"reference-count":10,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2020,6,1]],"date-time":"2020-06-01T00:00:00Z","timestamp":1590969600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"key Clinical Specialty Discipline Construction Program of Fujian, P.R.C.","award":["050145"],"award-info":[{"award-number":["050145"]}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Aust J Dermatology"],"published-print":{"date-parts":[[2020,11]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    We reported a Chinese pedigree with scrotal Dowling\u2013Degos disease and evaluated the phenotypic and genotypic characteristics. In affected cases, pigmented macules were identified on the scrotum. The rashes increased, and the colour deepened progressively. No pain or pruritus were noticed, and no other skin folds were involved. Skin histopathology showed characteristic features of Dowling\u2013Degos disease. A heterozygous\n                    <jats:italic>PSENEN<\/jats:italic>\n                    frameshift variant c.292delC\uff08p.L98Wfs*47\uff09 was identified in affected cases. The variant was not found in dbSNP, 1000 Genomes project database and the ExAC Browser. The p.L98 and adjacent amino acids are highly conserved among species. Our cases expand the phenotypic and genotypic spectrum of\n                    <jats:italic>PSENEN<\/jats:italic>\n                    \u2010related Dowling\u2013Degos disease.\n                  <\/jats:p>","DOI":"10.1111\/ajd.13316","type":"journal-article","created":{"date-parts":[[2020,6,1]],"date-time":"2020-06-01T07:13:35Z","timestamp":1590995615000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["Scrotal Dowling\u2013Degos disease caused by a novel frameshift variant in gamma\u2010secretase subunit presenile enhancer gene"],"prefix":"10.1111","volume":"61","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-4626-5410","authenticated-orcid":false,"given":"Jun","family":"Ren","sequence":"first","affiliation":[{"name":"Department of Dermatology Zhongshan Hospital Xiamen University Xiamen Fujian China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Li\u2010yue","family":"Zeng","sequence":"additional","affiliation":[{"name":"Department of Dermatology Zhongshan Hospital Xiamen University Xiamen Fujian China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2020,6]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1086\/500850"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2013.04.022"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2013.12.003"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI90667"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1111\/bjd.18221"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1111\/ced.13649"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2133.2010.09741.x"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.5021\/ad.2011.23.2.205"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1038\/jid.2014.406"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1111\/bjd.16000"}],"container-title":["Australasian Journal of Dermatology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fajd.13316","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/ajd.13316","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1111\/ajd.13316","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/ajd.13316","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,3]],"date-time":"2023-09-03T12:39:39Z","timestamp":1693744779000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/ajd.13316"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,6]]},"references-count":10,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2020,11]]}},"alternative-id":["10.1111\/ajd.13316"],"URL":"https:\/\/doi.org\/10.1111\/ajd.13316","archive":["Portico"],"relation":{},"ISSN":["0004-8380","1440-0960"],"issn-type":[{"value":"0004-8380","type":"print"},{"value":"1440-0960","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,6]]},"assertion":[{"value":"2020-06-01","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}