{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T03:32:20Z","timestamp":1761708740834},"reference-count":7,"publisher":"Springer Science and Business Media LLC","issue":"5","license":[{"start":{"date-parts":[[2012,1,20]],"date-time":"2012-01-20T00:00:00Z","timestamp":1327017600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Eye"],"published-print":{"date-parts":[[2012,5]]},"DOI":"10.1038\/eye.2011.344","type":"journal-article","created":{"date-parts":[[2012,1,20]],"date-time":"2012-01-20T11:33:23Z","timestamp":1327059203000},"page":"753-755","source":"Crossref","is-referenced-by-count":6,"title":["Angioid streaks with severe macular dysfunction and generalised retinal involvement due to a homozygous duplication in the ABCC6 gene"],"prefix":"10.1038","volume":"26","author":[{"given":"M H","family":"Tan","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"O M","family":"Vanakker","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"H V","family":"Tran","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A G","family":"Robson","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J E","family":"Lai-Cheong","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R","family":"Groves","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G E","family":"Holder","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A T","family":"Moore","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2012,1,20]]},"reference":[{"key":"BFeye2011344_CR1","doi-asserted-by":"publisher","first-page":"228","DOI":"10.1038\/76109","volume":"25","author":"AA Bergen","year":"2000","unstructured":"Bergen AA, Plomp AS, Schuurman EJ, Terry S, Breuning M, Dauwerse H et al. Mutations in ABCC6 cause pseudoxanthoma elasticum. Nat Genet 2000; 25: 228\u2013231.","journal-title":"Nat Genet"},{"key":"BFeye2011344_CR2","doi-asserted-by":"publisher","first-page":"923","DOI":"10.1001\/archopht.123.7.923","volume":"123","author":"A Agarwal","year":"2005","unstructured":"Agarwal A, Patel P, Adkins T, Gass JD . Spectrum of pattern dystrophy in pseudoxanthoma elasticum. Arch Ophthalmol 2005; 123: 923\u2013928.","journal-title":"Arch Ophthalmol"},{"key":"BFeye2011344_CR3","doi-asserted-by":"publisher","first-page":"79","DOI":"10.1136\/bjo.78.1.79-a","volume":"78","author":"FG Holz","year":"1994","unstructured":"Holz FG, Jubb C, Fitzke FW, Bird AC, Pope FM . Dark adaptation and scotopic perimetry over \u2018peau d\u2019orange\u2019 in pseudoxanthoma elasticum. Br J Ophthalmol 1994; 78: 79\u201380.","journal-title":"Br J Ophthalmol"},{"key":"BFeye2011344_CR4","doi-asserted-by":"publisher","first-page":"4250","DOI":"10.1167\/iovs.05-1604","volume":"48","author":"I Audo","year":"2007","unstructured":"Audo I, Vanakker OM, Smith A, Leroy BP, Robson AG, Jenkins SA et al. Pseudoxanthoma elasticum with generalized retinal dysfunction, a common finding? Invest Ophthalmol Vis Sci 2007; 48: 4250\u20134256.","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"BFeye2011344_CR5","doi-asserted-by":"publisher","first-page":"215","DOI":"10.1038\/sj.eye.6701449","volume":"19","author":"S Yoshida","year":"2005","unstructured":"Yoshida S, Honda M, Yoshida A, Nakao S, Goto Y, Nakamura T et al. Novel mutation in ABCC6 gene in a Japanese pedigree with pseudoxanthoma elasticum and retinitis pigmentosa. Eye (Lond) 2005; 19: 215\u2013217.","journal-title":"Eye (Lond)"},{"key":"BFeye2011344_CR6","doi-asserted-by":"publisher","first-page":"438","DOI":"10.1002\/humu.9284","volume":"24","author":"D Gheduzzi","year":"2004","unstructured":"Gheduzzi D, Guidetti R, Anzivino C, Tarugi P, Di Leo E, Quaglino D et al. ABCC6 mutations in Italian families affected by pseudoxanthoma elasticum (PXE). Hum Mutat 2004; 24: 438\u2013439.","journal-title":"Hum Mutat"},{"issue":"10","key":"BFeye2011344_CR7","doi-asserted-by":"publisher","first-page":"621","DOI":"10.1136\/jmg.2007.051094","volume":"44","author":"EG Pfendner","year":"2007","unstructured":"Pfendner EG, Vanakker OM, Terry SF, Vourthis S, McAndrew PE, McClain MR et al. Mutation detection in the ABCC6 gene and genotype-phenotype analysis in a large international case series affected by pseudoxanthoma elasticum. J Med Genet 2007; 44 (10): 621\u2013628.","journal-title":"J Med Genet"}],"container-title":["Eye"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.nature.com\/articles\/eye2011344.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/eye2011344","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/eye2011344.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,5,18]],"date-time":"2023-05-18T17:15:02Z","timestamp":1684430102000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/eye2011344"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012,1,20]]},"references-count":7,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2012,5]]}},"alternative-id":["BFeye2011344"],"URL":"https:\/\/doi.org\/10.1038\/eye.2011.344","relation":{},"ISSN":["0950-222X","1476-5454"],"issn-type":[{"value":"0950-222X","type":"print"},{"value":"1476-5454","type":"electronic"}],"subject":[],"published":{"date-parts":[[2012,1,20]]}}}