{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,8]],"date-time":"2026-01-08T01:51:20Z","timestamp":1767837080958,"version":"3.49.0"},"reference-count":10,"publisher":"Elsevier BV","issue":"3","license":[{"start":{"date-parts":[[2025,6,1]],"date-time":"2025-06-01T00:00:00Z","timestamp":1748736000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2025,6,1]],"date-time":"2025-06-01T00:00:00Z","timestamp":1748736000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"funder":[{"DOI":"10.13039\/501100015763","name":"University of Szeged","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100015763","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100015269","name":"Magyarorsz\u00e1g Korm\u00e1nya","doi-asserted-by":"publisher","award":["GINOP-2.3.2-15-2016-00039"],"award-info":[{"award-number":["GINOP-2.3.2-15-2016-00039"]}],"id":[{"id":"10.13039\/501100015269","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100011019","name":"Nemzeti Kutat\u00e1si Fejleszt\u00e9si \u00e9s Innov\u00e1ci\u00f3s Hivatal","doi-asserted-by":"publisher","award":["7090"],"award-info":[{"award-number":["7090"]}],"id":[{"id":"10.13039\/501100011019","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100011019","name":"Nemzeti Kutat\u00e1si Fejleszt\u00e9si \u00e9s Innov\u00e1ci\u00f3s Hivatal","doi-asserted-by":"publisher","award":["FK131916"],"award-info":[{"award-number":["FK131916"]}],"id":[{"id":"10.13039\/501100011019","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","jdsjournal.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Journal of Dermatological Science"],"published-print":{"date-parts":[[2025,6]]},"DOI":"10.1016\/j.jdermsci.2025.04.007","type":"journal-article","created":{"date-parts":[[2025,4,17]],"date-time":"2025-04-17T16:22:06Z","timestamp":1744906926000},"page":"101-103","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":1,"title":["Oculocutaneous albinism type 1B associated with allelic combination of a risk haplotype"],"prefix":"10.1016","volume":"118","author":[{"given":"Nikoletta","family":"Nagy","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Aliasgari","family":"Abdolreza","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Margit","family":"P\u00e1l","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Barbara Anna","family":"Bokor","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Amarilla","family":"Barcsay-Veres","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"No\u00e9mi \u00c1gnes","family":"Varga","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M\u00e1rta","family":"Medvecz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vikt\u00f3ria","family":"Szab\u00f3","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M\u00e1rta","family":"Sz\u00e9ll","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.jdermsci.2025.04.007_bib1","doi-asserted-by":"crossref","first-page":"466","DOI":"10.1111\/pcmr.12688","article-title":"Molecular characterization of a series of 990 index patients with albinism","volume":"31","author":"Lasseaux","year":"2018","journal-title":"Pigment Cell Melanoma Res."},{"key":"10.1016\/j.jdermsci.2025.04.007_bib2","doi-asserted-by":"crossref","first-page":"3939","DOI":"10.1038\/s41467-022-31392-3","article-title":"The contribution of common regulatory and protein-coding TYR variants to the genetic architecture of albinism","volume":"13","author":"Michaud","year":"2022","journal-title":"Nat. Commun."},{"key":"10.1016\/j.jdermsci.2025.04.007_bib3","doi-asserted-by":"crossref","first-page":"4415","DOI":"10.1038\/s41598-017-04401-5","article-title":"Identification of a functionally significant tri-allelic genotype in the Tyrosinase gene (TYR) causing hypomorphic oculocutaneous albinism (OCA1B)","volume":"7","author":"Norman","year":"2017","journal-title":"Sci. Rep."},{"key":"10.1016\/j.jdermsci.2025.04.007_bib4","doi-asserted-by":"crossref","first-page":"2","DOI":"10.1038\/s41525-021-00275-9","article-title":"Evidence that the Ser192Tyr\/Arg402Gln in cis Tyrosinase gene haplotype is a disease-causing allele in oculocutaneous albinism type 1B (OCA1B)","volume":"7","author":"Lin","year":"2022","journal-title":"NPJ Genom. Med."},{"key":"10.1016\/j.jdermsci.2025.04.007_bib5","doi-asserted-by":"crossref","first-page":"1123","DOI":"10.1016\/j.ajhg.2023.05.012","article-title":"Haplotype-based analysis resolves missing heritability in oculocutaneous albinism type 1B","volume":"110","author":"Loftus","year":"2023","journal-title":"Am. J. Hum. Genet"},{"key":"10.1016\/j.jdermsci.2025.04.007_bib6","doi-asserted-by":"crossref","DOI":"10.1016\/j.xops.2021.100077","article-title":"Assessing foveal structure in individuals with TYR R402Q and S192Y hypomorphic alleles","volume":"1","author":"Ayala","year":"2021","journal-title":"Ophthalmol. Sci."},{"key":"10.1016\/j.jdermsci.2025.04.007_bib7","doi-asserted-by":"crossref","first-page":"1245","DOI":"10.1136\/jmg-2022-109088","article-title":"A multilayered approach to the analysis of genetic data from individuals with suspected albinism","volume":"60","author":"Sergouniotis","year":"2023","journal-title":"J. Med. Genet."},{"key":"10.1016\/j.jdermsci.2025.04.007_bib8","doi-asserted-by":"crossref","first-page":"1449","DOI":"10.1111\/jdv.17275","article-title":"Management of albinism: French guidelines for diagnosis and care","volume":"35","author":"Moreno-Artero","year":"2021","journal-title":"J. Eur. Acad. Dermatol. Venereol."},{"key":"10.1016\/j.jdermsci.2025.04.007_bib9","doi-asserted-by":"crossref","first-page":"1953","DOI":"10.1016\/j.ophtha.2018.08.003","article-title":"The phenotypic spectrum of albinism","volume":"125","author":"Kruijt","year":"2018","journal-title":"Ophthalmology"},{"key":"10.1016\/j.jdermsci.2025.04.007_bib10","doi-asserted-by":"crossref","DOI":"10.3389\/fgene.2022.920390","article-title":"Incomplete penetrance and variable expressivity: from clinical studies to population cohorts","volume":"13","author":"Kingdom","year":"2022","journal-title":"Front. Genet."}],"container-title":["Journal of Dermatological Science"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0923181125000611?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0923181125000611?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,6,6]],"date-time":"2025-06-06T03:28:04Z","timestamp":1749180484000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0923181125000611"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,6]]},"references-count":10,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2025,6]]}},"alternative-id":["S0923181125000611"],"URL":"https:\/\/doi.org\/10.1016\/j.jdermsci.2025.04.007","relation":{},"ISSN":["0923-1811"],"issn-type":[{"value":"0923-1811","type":"print"}],"subject":[],"published":{"date-parts":[[2025,6]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Oculocutaneous albinism type 1B associated with allelic combination of a risk haplotype","name":"articletitle","label":"Article Title"},{"value":"Journal of Dermatological Science","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.jdermsci.2025.04.007","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"simple-article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2025 Japanese Society for Investigative Dermatology. Published by Elsevier B.V. All rights are reserved, including those for text and data mining, AI training, and similar technologies.","name":"copyright","label":"Copyright"}]}}