{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,8,20]],"date-time":"2024-08-20T00:11:55Z","timestamp":1724112715168},"reference-count":9,"publisher":"Springer Science and Business Media LLC","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2024,8,19]]},"DOI":"10.7759\/cureus.67204","type":"journal-article","created":{"date-parts":[[2024,8,19]],"date-time":"2024-08-19T15:03:43Z","timestamp":1724079823000},"source":"Crossref","is-referenced-by-count":0,"title":["Ocular Albinism, Telecanthus, and Skin Depigmentation: A Phenotypic Conundrum"],"prefix":"10.7759","author":[{"given":"Jos\u00e9 J","family":"L\u00f3pez-Fontanet","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ra\u00fal  Y","family":"Ramos-S\u00e1nchez","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Natalio","family":"Izquierdo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1007\/978-3-319-95046-4_11","article-title":"X-linked ocular albinism","volume":"1085","author":"Tsang SH","year":"2018","unstructured":"Tsang SH, Sharma T. X-linked ocular albinism. Adv Exp Med Biol. 2018, 1085:49-52. 10.1007\/978-3-319-95046-4_11","journal-title":"Adv Exp Med Biol"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ophtha.2018.08.003","article-title":"The phenotypic spectrum of albinism","volume":"125","author":"Kruijt CC","year":"2018","unstructured":"Kruijt CC, de Wit GC, Bergen AA, Florijn RJ, Schalij-Delfos NE, van Genderen MM. The phenotypic spectrum of albinism. Ophthalmology. 2018, 125:1953-60. 10.1016\/j.ophtha.2018.08.003","journal-title":"Ophthalmology"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1167\/iovs.10-5685","article-title":"Clinical and oculomotor characteristics of albinism compared to FRMD7 associated infantile nystagmus","volume":"52","author":"Kumar A","year":"2011","unstructured":"Kumar A, Gottlob I, McLean RJ, Thomas S, Thomas MG, Proudlock FA. Clinical and oculomotor characteristics of albinism compared to FRMD7 associated infantile nystagmus. Invest Ophthalmol Vis Sci. 2011, 52:2306-13. 10.1167\/iovs.10-5685","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"ref4","article-title":"Oculocutaneous albinism and ocular albinism overview","author":"Thomas MG","year":"2023","unstructured":"Thomas MG, Zippin J, Brooks BP. Oculocutaneous albinism and ocular albinism overview. GeneReviews. Adam MP, Feldman J, Mirzaa GM, et al. (ed): University of Washington, Seattle, WA; 2023."},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1080\/13816810.2021.1958352","article-title":"GPR143 genotypic and ocular phenotypic characterisation in a Chinese cohort with ocular albinism","volume":"42","author":"Zhong J","year":"2021","unstructured":"Zhong J, You B, Xu K, Zhang X, Xie Y, Li Y. GPR143 genotypic and ocular phenotypic characterisation in a Chinese cohort with ocular albinism. Ophthalmic Genet. 2021, 42:717-24. 10.1080\/13816810.2021.1958352","journal-title":"Ophthalmic Genet"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2559.1980.tb02919.x","article-title":"Macromelanosomes in X-linked ocular albinism","volume":"4","author":"Garner A","year":"1980","unstructured":"Garner A, Jay BS. Macromelanosomes in X-linked ocular albinism. Histopathology. 1980, 4:243-54. 10.1111\/j.1365-2559.1980.tb02919.x","journal-title":"Histopathology"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddn241","article-title":"The ocular albinism type 1 protein, an intracellular G protein-coupled receptor, regulates melanosome transport in pigment cells","volume":"17","author":"Palmisano I","year":"2008","unstructured":"Palmisano I, Bagnato P, Palmigiano A, et al.. The ocular albinism type 1 protein, an intracellular G protein-coupled receptor, regulates melanosome transport in pigment cells. Hum Mol Genet. 2008, 17:3487-501. 10.1093\/hmg\/ddn241","journal-title":"Hum Mol Genet"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.4103\/ijo.IJO_3003_21","article-title":"Waardenburg syndrome type 1","volume":"70","author":"Agrawal R","year":"2022","unstructured":"Agrawal R, Walia S. Waardenburg syndrome type 1. Indian J Ophthalmol. 2022, 70:2679-81. 10.4103\/ijo.IJO_3003_21","journal-title":"Indian J Ophthalmol"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1159\/000506103","article-title":"Vitiligo: a review","volume":"236","author":"Bergqvist C","year":"2020","unstructured":"Bergqvist C, Ezzedine K. Vitiligo: a review. Dermatology. 2020, 236:571-92. 10.1159\/000506103","journal-title":"Dermatology"}],"container-title":["Cureus"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.cureus.com\/articles\/281142-ocular-albinism-telecanthus-and-skin-depigmentation-a-phenotypic-conundrum","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,8,19]],"date-time":"2024-08-19T15:03:46Z","timestamp":1724079826000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.cureus.com\/articles\/281142-ocular-albinism-telecanthus-and-skin-depigmentation-a-phenotypic-conundrum"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,8,19]]},"references-count":9,"URL":"https:\/\/doi.org\/10.7759\/cureus.67204","relation":{},"ISSN":["2168-8184"],"issn-type":[{"value":"2168-8184","type":"print"}],"subject":[],"published":{"date-parts":[[2024,8,19]]}}}