{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,30]],"date-time":"2026-01-30T15:40:37Z","timestamp":1769787637868,"version":"3.49.0"},"reference-count":4,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2025,8,17]],"date-time":"2025-08-17T00:00:00Z","timestamp":1755388800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2025,8,17]],"date-time":"2025-08-17T00:00:00Z","timestamp":1755388800000},"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":["Pediatric Dermatology"],"published-print":{"date-parts":[[2026,1]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    Trichothiodystrophy exhibits a broad clinical spectrum, and cases with an uncommon phenotype can go unnoticed, complicating the diagnosis. We present the second case of type 9 non\u2010photosensitive trichothiodystrophy caused by a homozygous variant in the\n                    <jats:italic>MARS1<\/jats:italic>\n                    gene. It presented with atypical features, including long hair, normal hair density of eyebrows and eyelashes, and precocious puberty.\n                  <\/jats:p>","DOI":"10.1111\/pde.70015","type":"journal-article","created":{"date-parts":[[2025,8,18]],"date-time":"2025-08-18T03:36:57Z","timestamp":1755488217000},"page":"209-210","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Second Case of Type 9 Non\u2010Photosensitive Trichothiodystrophy Caused by Homozygous Variant\u00a0in\u00a0the\u00a0\n                    <i>MARS1<\/i>\n                    Gene"],"prefix":"10.1111","volume":"43","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7429-9592","authenticated-orcid":false,"given":"Miguel Antonio","family":"Lasheras\u2010P\u00e9rez","sequence":"first","affiliation":[{"name":"Department of Dermatology La Fe University and Polytechnic Hospital  Valencia Spain"},{"name":"Health Research Institute La Fe Hospital  Valencia Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0589-2584","authenticated-orcid":false,"given":"Francisco","family":"Mart\u00ednez\u2010Castellano","sequence":"additional","affiliation":[{"name":"Genetics Unit La Fe University and Polytechnic Hospital  Valencia Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M\u00f3nica","family":"Pozuelo\u2010Ruiz","sequence":"additional","affiliation":[{"name":"Department of Dermatology La Plana University Hospital  Castell\u00f3n Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6027-376X","authenticated-orcid":false,"given":"Ana Victoria","family":"Marco\u2010Hern\u00e1ndez","sequence":"additional","affiliation":[{"name":"Pediatric Neurology Unit, Department of Pediatrics Doctor Peset Hospital  Valencia Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Montserrat","family":"\u00c9vole\u2010Buselli","sequence":"additional","affiliation":[{"name":"Department of Dermatology La Fe University and Polytechnic Hospital  Valencia Spain"},{"name":"Health Research Institute La Fe Hospital  Valencia Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2025,8,17]]},"reference":[{"issue":"2","key":"e_1_2_1_5_2_1","first-page":"14","article-title":"Trichoscopy in Genetic Hair Shaft Abnormalities","volume":"2","author":"Rakowska A.","year":"2008","journal-title":"Journal of Dermatology Case Reports"},{"key":"e_1_2_1_5_3_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2008.058743"},{"key":"e_1_2_1_5_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_2_1_5_5_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddab123"}],"container-title":["Pediatric Dermatology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/pde.70015","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1111\/pde.70015","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/pde.70015","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,1,30]],"date-time":"2026-01-30T01:29:52Z","timestamp":1769736592000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/pde.70015"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,8,17]]},"references-count":4,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2026,1]]}},"alternative-id":["10.1111\/pde.70015"],"URL":"https:\/\/doi.org\/10.1111\/pde.70015","archive":["Portico"],"relation":{},"ISSN":["0736-8046","1525-1470"],"issn-type":[{"value":"0736-8046","type":"print"},{"value":"1525-1470","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,8,17]]},"assertion":[{"value":"2025-04-13","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-08-08","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-08-17","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}