{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,8]],"date-time":"2026-03-08T19:57:19Z","timestamp":1772999839795,"version":"3.50.1"},"reference-count":9,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2026,2,2]],"date-time":"2026-02-02T00:00:00Z","timestamp":1769990400000},"content-version":"vor","delay-in-days":1,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2026,2,1]],"date-time":"2026-02-01T00:00:00Z","timestamp":1769904000000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Case Reports"],"published-print":{"date-parts":[[2026,2]]},"abstract":"ABSTRACT<\/jats:title>\n We report the first female case of Goltz\u2013Gorlin syndrome with the PORCN c.1093C>T (p.Arg365Trp) variant, previously described only in a male with Klinefelter syndrome. This case expands the known phenotypic and genotypic spectrum of FDH.<\/jats:p>","DOI":"10.1002\/ccr3.71592","type":"journal-article","created":{"date-parts":[[2026,2,3]],"date-time":"2026-02-03T06:41:10Z","timestamp":1770100870000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Identification of a\n PORCN<\/scp>\n c.\n 1093C<\/scp>\n >T (p.\n Arg365Trp<\/scp>\n ) Variant in a 12\u2010Year\u2010Old Girl With Goltz\u2013Gorlin Syndrome"],"prefix":"10.1002","volume":"14","author":[{"ORCID":"https:\/\/orcid.org\/0009-0009-1626-0855","authenticated-orcid":false,"given":"Anna","family":"Bolzon","sequence":"first","affiliation":[{"name":"Dermatology Unit, Department of Medicine (DIMED) University of Padua Padua Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Francesca","family":"Caroppo","sequence":"additional","affiliation":[{"name":"Dermatology Unit, Department of Medicine (DIMED) University of Padua Padua Italy"},{"name":"Pediatric Dermatology Regional Center, Department of Women and Children's Health University of Padua Padua Italy"},{"name":"European Network for Rare Skin Disorders (ERN\u2010Skin) Padua Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lisa","family":"Passaglia","sequence":"additional","affiliation":[{"name":"Clinical Genetics Unit, Department of Women's and Children's Health University of Padova Padova Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Francesca","family":"Boaretto","sequence":"additional","affiliation":[{"name":"Institute of Pediatric Research Citt\u00e0 Della Speranza Padua Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Leonardo","family":"Salviati","sequence":"additional","affiliation":[{"name":"Clinical Genetics Unit, Department of Women's and Children's Health University of Padova Padova Italy"},{"name":"Institute of Pediatric Research Citt\u00e0 Della Speranza Padua Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anna","family":"Belloni Fortina","sequence":"additional","affiliation":[{"name":"Pediatric Dermatology Regional Center, Department of Women and Children's Health University of Padua Padua Italy"},{"name":"European Network for Rare Skin Disorders (ERN\u2010Skin) Padua Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2026,2,2]]},"reference":[{"key":"e_1_2_15_2_1","doi-asserted-by":"publisher","DOI":"10.1111\/pde.15752"},{"key":"e_1_2_15_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/pde.12031"},{"key":"e_1_2_15_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.61984"},{"key":"e_1_2_15_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/bjd.17024"},{"key":"e_1_2_15_6_1","first-page":"1013","volume-title":"Dermatology","author":"Bolognia J.","year":"2018"},{"key":"e_1_2_15_7_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2009.068403"},{"key":"e_1_2_15_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.devcel.2006.10.003"},{"key":"e_1_2_15_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng2057"},{"key":"e_1_2_15_10_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0032331"}],"container-title":["Clinical Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ccr3.71592","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/ccr3.71592","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ccr3.71592","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,3,8]],"date-time":"2026-03-08T17:23:50Z","timestamp":1772990630000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ccr3.71592"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,2]]},"references-count":9,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2026,2]]}},"alternative-id":["10.1002\/ccr3.71592"],"URL":"https:\/\/doi.org\/10.1002\/ccr3.71592","archive":["Portico"],"relation":{},"ISSN":["2050-0904","2050-0904"],"issn-type":[{"value":"2050-0904","type":"print"},{"value":"2050-0904","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,2]]},"assertion":[{"value":"2025-07-13","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-11-25","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-02-02","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e71592"}}