{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T12:48:25Z","timestamp":1791290905094,"version":"4.3.0"},"reference-count":15,"publisher":"Springer Science and Business Media LLC","issue":"8","license":[{"start":{"date-parts":[[2014,2,12]],"date-time":"2014-02-12T00:00:00Z","timestamp":1392163200000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Eur J Hum Genet"],"published-print":{"date-parts":[[2014,8]]},"DOI":"10.1038\/ejhg.2013.307","type":"journal-article","created":{"date-parts":[[2014,2,12]],"date-time":"2014-02-12T11:27:22Z","timestamp":1392204442000},"page":"1054-1054","source":"Crossref","is-referenced-by-count":16,"title":["Clinical utility gene card for: Oculocutaneous albinism"],"prefix":"10.1038","volume":"22","author":[{"given":"Karen","family":"Gr\u00f8nskov","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karen","family":"Br\u00f8ndum-Nielsen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Birgit","family":"Lorenz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Markus N","family":"Preising","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2014,2,12]]},"reference":[{"key":"BFejhg2013307_CR1","first-page":"199","volume":"49","author":"WS Oetting","year":"1991","unstructured":"Oetting WS, Mentink MM, Summers CG et al: Three different frameshift mutations of the tyrosinase gene in type IA oculocutaneous albinism. Am J Hum Genet 1991; 49: 199\u2013206.","journal-title":"Am J Hum Genet"},{"key":"BFejhg2013307_CR2","doi-asserted-by":"publisher","first-page":"868","DOI":"10.1167\/iovs.07-0791","volume":"49","author":"SM Hutton","year":"2008","unstructured":"Hutton SM, Spritz RA : A comprehensive genetic study of autosomal recessive ocular albinism in Caucasian patients. Invest Ophthalmol Vis Sci 2008; 49: 868\u2013872.","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"BFejhg2013307_CR3","doi-asserted-by":"publisher","first-page":"827","DOI":"10.1002\/humu.22315","volume":"34","author":"DR Simeonov","year":"2013","unstructured":"Simeonov DR, Wang X, Wang C et al: DNA variations in oculocutaneous albinism: an updated mutation list and current outstanding issues in molecular diagnostics. Hum Mutat 2013; 34: 827\u2013835.","journal-title":"Hum Mutat"},{"key":"BFejhg2013307_CR4","doi-asserted-by":"publisher","first-page":"1058","DOI":"10.1167\/iovs.08-2639","volume":"50","author":"K Gronskov","year":"2009","unstructured":"Gronskov K, Ek J, Sand A et al: Birth prevalence and mutation spectrum in danish patients with autosomal recessive albinism. Invest Ophthalmol Vis Sci 2009; 50: 1058\u20131064.","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"BFejhg2013307_CR5","doi-asserted-by":"publisher","first-page":"529","DOI":"10.1056\/NEJM199402243300803","volume":"330","author":"ST Lee","year":"1994","unstructured":"Lee ST, Nicholls RD, Bundey S et al: Mutations of the P gene in oculocutaneous albinism, ocular albinism, and Prader-Willi syndrome plus albinism. N Engl J Med 1994; 330: 529\u2013534.","journal-title":"N Engl J Med"},{"key":"BFejhg2013307_CR6","first-page":"2047","volume":"3","author":"ST Lee","year":"1994","unstructured":"Lee ST, Nicholls RD, Schnur RE et al: Diverse mutations of the P gene among African-Americans with type II (tyrosinase-positive) oculocutaneous albinism (OCA2). Hum Mol Genet 1994; 3: 2047\u20132051.","journal-title":"Hum Mol Genet"},{"key":"BFejhg2013307_CR7","doi-asserted-by":"publisher","first-page":"239","DOI":"10.1111\/j.1600-0749.2006.00298.x","volume":"19","author":"C Rooryck","year":"2006","unstructured":"Rooryck C, Roudaut C, Robine E, Musebeck J, Arveiler B : Oculocutaneous albinism with TYRP1 gene mutations in a Caucasian patient. Pigment Cell Res 2006; 19: 239\u2013242.","journal-title":"Pigment Cell Res"},{"key":"BFejhg2013307_CR8","doi-asserted-by":"publisher","first-page":"106","DOI":"10.1002\/humu.10311","volume":"23","author":"U Rundshagen","year":"2004","unstructured":"Rundshagen U, Zuhlke C, Opitz S, Schwinger E, Kasmann-Kellner B : Mutations in the MATP gene in five German patients affected by oculocutaneous albinism type 4. Hum Mutat 2004; 23: 106\u2013110.","journal-title":"Hum Mutat"},{"key":"BFejhg2013307_CR9","doi-asserted-by":"publisher","first-page":"415","DOI":"10.1016\/j.ajhg.2013.01.006","volume":"92","author":"K Gronskov","year":"2013","unstructured":"Gronskov K, Dooley CM, Ostergaard E et al: Mutations in c10orf11, a melanocyte-differentiation gene, cause autosomal-recessive albinism. Am J Hum Genet 2013; 92: 415\u2013421.","journal-title":"Am J Hum Genet"},{"key":"BFejhg2013307_CR10","doi-asserted-by":"publisher","first-page":"1834","DOI":"10.1038\/jid.2013.49","volume":"133","author":"AH Wei","year":"2013","unstructured":"Wei AH, Zang DJ, Zhang Z et al: Exome sequencing identifies SLC24A5 as a candidate gene for nonsyndromic oculocutaneous albinism. J Invest Dermatol 2013; 133: 1834\u20131840.","journal-title":"J Invest Dermatol"},{"key":"BFejhg2013307_CR11","doi-asserted-by":"publisher","first-page":"470","DOI":"10.1016\/j.gene.2012.09.012","volume":"511","author":"M Mondal","year":"2012","unstructured":"Mondal M, Sengupta M, Samanta S, Sil A, Ray K : Molecular basis of albinism in India: evaluation of seven potential candidate genes and some new findings. Gene 2012; 511: 470\u2013474.","journal-title":"Gene"},{"key":"BFejhg2013307_CR12","doi-asserted-by":"publisher","first-page":"59","DOI":"10.1111\/pcmr.12173","volume":"27","author":"F Morice-Picard","year":"2014","unstructured":"Morice-Picard F, Lasseaux E, Cailley D et al: High-resolution array-CGH in patients with oculocutaneous albinism identifies new deletions of the TYR, OCA2, and SLC45A2 genes and a complex rearrangement of the OCA2 gene. Pigment Cell Melanoma Res 2014; 27: 59\u201371.","journal-title":"Pigment Cell Melanoma Res"},{"key":"BFejhg2013307_CR13","doi-asserted-by":"publisher","first-page":"43","DOI":"10.1186\/1750-1172-2-43","volume":"2","author":"K Gronskov","year":"2007","unstructured":"Gronskov K, Ek J, Brondum-Nielsen K : Oculocutaneous albinism. Orphanet J Rare Dis 2007; 2: 43.","journal-title":"Orphanet J Rare Dis"},{"key":"BFejhg2013307_CR14","doi-asserted-by":"publisher","first-page":"91","DOI":"10.1111\/cge.12019","volume":"84","author":"T Kausar","year":"2013","unstructured":"Kausar T, Bhatti MA, Ali M, Shaikh RS, Ahmed ZM : OCA5, a novel locus for non-syndromic oculocutaneous albinism, maps to chromosome 4q24. Clin Genet 2013; 84: 91\u201393.","journal-title":"Clin Genet"},{"key":"BFejhg2013307_CR15","doi-asserted-by":"publisher","first-page":"11","DOI":"10.1111\/pcmr.12167","volume":"27","author":"L Montoliu","year":"2013","unstructured":"Montoliu L, Gronskov K, Wei AH et al: Increasing the complexity: new genes and new types of albinism. Pigment Cell Melanoma Res 2013; 27: 11\u201318.","journal-title":"Pigment Cell Melanoma Res"}],"container-title":["European Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.nature.com\/articles\/ejhg2013307.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/ejhg2013307","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/ejhg2013307.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,5,18]],"date-time":"2023-05-18T17:10:20Z","timestamp":1684429820000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/ejhg2013307"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,2,12]]},"references-count":15,"journal-issue":{"issue":"8","published-print":{"date-parts":[[2014,8]]}},"alternative-id":["BFejhg2013307"],"URL":"https:\/\/doi.org\/10.1038\/ejhg.2013.307","relation":{},"ISSN":["1018-4813","1476-5438"],"issn-type":[{"value":"1018-4813","type":"print"},{"value":"1476-5438","type":"electronic"}],"subject":[],"published":{"date-parts":[[2014,2,12]]}}}