{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,11,13]],"date-time":"2026-11-13T12:22:31Z","timestamp":1794572551338,"version":"4.9.1"},"reference-count":134,"publisher":"Elsevier BV","issue":"2","license":[{"start":{"date-parts":[[2009,3,1]],"date-time":"2009-03-01T00:00:00Z","timestamp":1235865600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2009,3,1]],"date-time":"2009-03-01T00:00:00Z","timestamp":1235865600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","surveyophthalmol.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Survey of Ophthalmology"],"published-print":{"date-parts":[[2009,3]]},"DOI":"10.1016\/j.survophthal.2008.12.006","type":"journal-article","created":{"date-parts":[[2009,3,18]],"date-time":"2009-03-18T04:43:02Z","timestamp":1237351382000},"page":"272-285","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":176,"title":["Pseudoxanthoma Elasticum: Genetics, Clinical Manifestations and Therapeutic Approaches"],"prefix":"10.1016","volume":"54","author":[{"given":"Robert P.","family":"Finger","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter Charbel","family":"Issa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Markus S.","family":"Ladewig","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christian","family":"G\u00f6tting","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christina","family":"Szliska","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hendrik P.N.","family":"Scholl","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Frank G.","family":"Holz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.survophthal.2008.12.006_bib1","doi-asserted-by":"crossref","first-page":"198","DOI":"10.1097\/00006982-199515030-00003","article-title":"Surgery for subfoveal membranes in myopia, angioid streaks, and other disorders","volume":"15","author":"Adelberg","year":"1995","journal-title":"Retina"},{"key":"10.1016\/j.survophthal.2008.12.006_bib2","first-page":"241","article-title":"[Genesis of angioid streaks (Knapp)]","volume":"119","author":"Adelung","year":"1951","journal-title":"Klin Monatsblatter Augenheilkd Augenarztl Fortbild"},{"key":"10.1016\/j.survophthal.2008.12.006_bib3","doi-asserted-by":"crossref","first-page":"30","DOI":"10.1182\/blood.V99.1.30","article-title":"Elastic tissue abnormalities resembling pseudoxanthoma elasticum in beta thalassemia and the sickling syndromes","volume":"99","author":"Aessopos","year":"2002","journal-title":"Blood"},{"key":"10.1016\/j.survophthal.2008.12.006_bib4","doi-asserted-by":"crossref","first-page":"640","DOI":"10.1046\/j.1365-2362.2002.01033.x","article-title":"Elastic tissue abnormalities in inherited haemolytic syndromes","volume":"32","author":"Aessopos","year":"2002","journal-title":"Eur J\u00a0Clin Invest"},{"key":"10.1016\/j.survophthal.2008.12.006_bib5","doi-asserted-by":"crossref","first-page":"923","DOI":"10.1001\/archopht.123.7.923","article-title":"Spectrum of pattern dystrophy in pseudoxanthoma elasticum","volume":"123","author":"Agarwal","year":"2005","journal-title":"Arch Ophthalmol"},{"key":"10.1016\/j.survophthal.2008.12.006_bib6","doi-asserted-by":"crossref","first-page":"156","DOI":"10.1111\/j.1365-2362.2004.01306.x","article-title":"High levels of desmosines in urine and plasma of patients with pseudoxanthoma elasticum","volume":"34","author":"Annovazzi","year":"2005","journal-title":"Eur J Clin Invest"},{"key":"10.1016\/j.survophthal.2008.12.006_bib7","doi-asserted-by":"crossref","first-page":"753","DOI":"10.1007\/s00417-005-0131-3","article-title":"Long-term results of photodynamic therapy for the treatment of choroidal neovascularization secondary to angioid streaks","volume":"244","author":"Arias","year":"2006","journal-title":"Graefes Arch Clin Exp Ophthalmol"},{"key":"10.1016\/j.survophthal.2008.12.006_bib8","doi-asserted-by":"crossref","first-page":"473","DOI":"10.1177\/112067210201200605","article-title":"Optical coherence tomography (OCT) and angiography in patients with angioid streaks","volume":"12","author":"Arvas","year":"2002","journal-title":"Eur J Ophthalmol"},{"key":"10.1016\/j.survophthal.2008.12.006_bib9","doi-asserted-by":"crossref","first-page":"33","DOI":"10.1067\/mjd.2001.110045","article-title":"Characterization of pseudoxanthoma elasticum-like lesions in the skin of patients with beta-thalassemia","volume":"44","author":"Baccarani-Contri","year":"2001","journal-title":"J Am Acad Dermatol"},{"key":"10.1016\/j.survophthal.2008.12.006_bib10","first-page":"111","article-title":"Immunochemical identification of abnormal constituents in the dermis of pseudoxanthoma elasticum patients","volume":"38","author":"Baccarani-Contri","year":"1994","journal-title":"Eur J Histochem"},{"key":"10.1016\/j.survophthal.2008.12.006_bib11","first-page":"6172","article-title":"Characterization of the drug resistance and transport properties of multidrug resistance protein 6 (MRP6, ABCC6)","volume":"62","author":"Belinsky","year":"2002","journal-title":"Cancer Res"},{"key":"10.1016\/j.survophthal.2008.12.006_bib12","doi-asserted-by":"crossref","first-page":"228","DOI":"10.1038\/76109","article-title":"Mutations in ABCC6 cause pseudoxanthoma elasticum","volume":"25","author":"Bergen","year":"2000","journal-title":"Nat Genet"},{"key":"10.1016\/j.survophthal.2008.12.006_bib13","doi-asserted-by":"crossref","first-page":"897","DOI":"10.1097\/IAE.0b013e31809ff5df","article-title":"Intravitreal bevacizumab for the management of choroidal neovascularization in pseudoxanthoma elasticum","volume":"27","author":"Bhatnagar","year":"2007","journal-title":"Retina"},{"key":"10.1016\/j.survophthal.2008.12.006_bib14","doi-asserted-by":"crossref","first-page":"540","DOI":"10.1136\/bjo.50.9.540","article-title":"Unusual traumatic retinal haemorrhages associated with angioid streaks","volume":"50","author":"Britten","year":"1966","journal-title":"Br J Ophthalmol"},{"key":"10.1016\/j.survophthal.2008.12.006_bib15","doi-asserted-by":"crossref","first-page":"1432","DOI":"10.1056\/NEJMoa062655","article-title":"Ranibizumab versus verteporfin for neovascular age-related macular degeneration","volume":"355","author":"Brown","year":"2006","journal-title":"N Engl J Med"},{"key":"10.1016\/j.survophthal.2008.12.006_bib16","doi-asserted-by":"crossref","first-page":"1227","DOI":"10.1016\/j.ophtha.2005.02.011","article-title":"Verteporfin photodynamic therapy of choroidal neovascularization in angioid streaks: one-year results of a prospective case series","volume":"112","author":"Browning","year":"2005","journal-title":"Ophthalmology"},{"key":"10.1016\/j.survophthal.2008.12.006_bib17","doi-asserted-by":"crossref","first-page":"536","DOI":"10.1007\/s001090100275","article-title":"A novel Q378X mutation exists in the transmembrane transporter protein ABCC6 and its pseudogene: implications for mutation analysis in pseudoxanthoma elasticum","volume":"79","author":"Cai","year":"2001","journal-title":"J Mol Med"},{"key":"10.1016\/j.survophthal.2008.12.006_bib18","doi-asserted-by":"crossref","first-page":"36","DOI":"10.1007\/s001090000079","article-title":"A 500-kb region on chromosome 16p13.1 contains the pseudoxanthoma elasticum locus: high-resolution mapping and genomic structure","volume":"78","author":"Cai","year":"2000","journal-title":"J Mol Med"},{"issue":"Suppl","key":"10.1016\/j.survophthal.2008.12.006_bib19","first-page":"1","article-title":"Vascular studies in pseudoxanthoma elasticum and angioid streaks; with a series of color photographs of the eyeground lesions","volume":"350","author":"Carlborg","year":"1959","journal-title":"Acta Med Scand"},{"key":"10.1016\/j.survophthal.2008.12.006_bib20","doi-asserted-by":"crossref","first-page":"266","DOI":"10.1136\/hrt.59.2.266","article-title":"The surgical treatment of restrictive cardiomyopathy in pseudoxanthoma elasticum","volume":"59","author":"Challenor","year":"1988","journal-title":"Br Heart J"},{"issue":"12","key":"10.1016\/j.survophthal.2008.12.006_bib21","doi-asserted-by":"crossref","first-page":"881","DOI":"10.1136\/jmg.2004.030171","article-title":"Pseudoxanthoma elasticum :a clinical, pathophysiological and genetic update including 11 novel ABCC6 mutations","volume":"42","author":"Chassaing","year":"2005","journal-title":"J Med Genet"},{"key":"10.1016\/j.survophthal.2008.12.006_bib22","doi-asserted-by":"crossref","first-page":"608","DOI":"10.1111\/j.0022-202X.2004.22312.x","article-title":"Novel ABCC6 mutations in pseudoxanthoma elasticum","volume":"122","author":"Chassaing","year":"2004","journal-title":"J Invest Dermatol"},{"key":"10.1016\/j.survophthal.2008.12.006_bib23","doi-asserted-by":"crossref","first-page":"660","DOI":"10.1111\/1523-1747.ep12668156","article-title":"Workshop on pseudoxanthoma elasticum: molecular biology and pathology of the elastic fibers. Jefferson Medical College, Philadelphia, Pennsylvania, June 10, 1992","volume":"99","author":"Christiano","year":"1992","journal-title":"J Invest Dermatol"},{"key":"10.1016\/j.survophthal.2008.12.006_bib24","doi-asserted-by":"crossref","first-page":"629","DOI":"10.1038\/sj.eye.6701930","article-title":"Photodynamic therapy (PDT) using verteporfin for juxtafoveal choroidal neovascularisation (CNV) in angioid streaks (AS) associated with pseudoxanthoma elasticum: 40 months results","volume":"20","author":"Chung","year":"2006","journal-title":"Eye"},{"key":"10.1016\/j.survophthal.2008.12.006_bib25","doi-asserted-by":"crossref","first-page":"537","DOI":"10.1016\/0002-9343(61)90078-X","article-title":"Pseudoxanthoma elasticum and angioid streaks. A review of 106 cases","volume":"30","author":"Connor","year":"1961","journal-title":"Am J Med"},{"key":"10.1016\/j.survophthal.2008.12.006_bib26","doi-asserted-by":"crossref","first-page":"223","DOI":"10.1007\/BF02924627","article-title":"Sonographic detection of renal changes in pseudoxanthoma elasticum","volume":"13","author":"Crespi","year":"1992","journal-title":"Urol Radiol"},{"key":"10.1016\/j.survophthal.2008.12.006_bib27","first-page":"609","article-title":"Pseudoxanthoma elasticum","volume":"23","author":"Darier","year":"1896","journal-title":"Monatshefte f\u00fcr Praktische Dermatologie"},{"key":"10.1016\/j.survophthal.2008.12.006_bib28","doi-asserted-by":"crossref","first-page":"16","DOI":"10.1002\/ajmg.1320380105","article-title":"Pseudoxanthoma elasticum: similar autosomal recessive subtype in Belgian and Afrikaner families","volume":"38","author":"De Paepe","year":"1991","journal-title":"Am J Med Genet"},{"key":"10.1016\/j.survophthal.2008.12.006_bib29","doi-asserted-by":"crossref","first-page":"1007","DOI":"10.1016\/S0022-2275(20)31588-1","article-title":"The human ATP-binding cassette (ABC) transporter superfamily","volume":"42","author":"Dean","year":"2001","journal-title":"J Lipid Res"},{"key":"10.1016\/j.survophthal.2008.12.006_bib30","first-page":"158","article-title":"The pathology of angioid streaks: a study of twenty-one cases","volume":"31","author":"Dreyer","year":"1978","journal-title":"Trans Pa Acad Ophthalmol Otolaryngol"},{"key":"10.1016\/j.survophthal.2008.12.006_bib31","first-page":"660","article-title":"[Pseudoxanthoma elasticum\u2014a visual diagnosis]","volume":"121","author":"Fah","year":"1991","journal-title":"Schweiz Med Wochenschr"},{"key":"10.1016\/j.survophthal.2008.12.006_bib32","first-page":"8","article-title":"Cutaneous manifestations of internal diseases and their role in diagnosis","volume":"113","author":"Farber","year":"1964","journal-title":"World Wide Abstr Gen Med"},{"key":"10.1016\/j.survophthal.2008.12.006_bib33","doi-asserted-by":"crossref","first-page":"483","DOI":"10.1136\/bjo.2007.129916","article-title":"Intravitreal bevacizumab for choroidal neovascularisation associated with pseudoxanthoma elasticum","volume":"92","author":"Finger","year":"2008","journal-title":"Br J Ophthalmol"},{"key":"10.1016\/j.survophthal.2008.12.006_bib34","doi-asserted-by":"crossref","first-page":"1706","DOI":"10.1378\/chest.101.6.1706","article-title":"Mitral stenosis in pseudoxanthoma elasticum","volume":"101","author":"Fukuda","year":"1992","journal-title":"Chest"},{"key":"10.1016\/j.survophthal.2008.12.006_bib35","doi-asserted-by":"crossref","first-page":"729","DOI":"10.1097\/00006982-200310000-00029","article-title":"Comet lesion: an ocular sign of pseudoxanthoma elasticum","volume":"23","author":"Gass","year":"2003","journal-title":"Retina"},{"key":"10.1016\/j.survophthal.2008.12.006_bib36","series-title":"Stereoscopic Atlas of Macular Diseases: Diagnosis and Treatment","author":"Gass","year":"1997"},{"key":"10.1016\/j.survophthal.2008.12.006_bib37","doi-asserted-by":"crossref","first-page":"299","DOI":"10.1016\/0002-9394(88)90014-1","article-title":"A long-term follow-up study of laser coagulation of neovascular membranes in angioid streaks","volume":"105","author":"Gelisken","year":"1988","journal-title":"Am J Ophthalmol"},{"key":"10.1016\/j.survophthal.2008.12.006_bib38","doi-asserted-by":"crossref","first-page":"438","DOI":"10.1002\/humu.9284","article-title":"ABCC6 mutations in Italian families affected by pseudoxanthoma elasticum (PXE)","volume":"24","author":"Gheduzzi","year":"2004","journal-title":"Hum Mutat"},{"key":"10.1016\/j.survophthal.2008.12.006_bib39","doi-asserted-by":"crossref","first-page":"375","DOI":"10.1080\/01913120390248584","article-title":"Extracutaneous ultrastructural alterations in pseudoxanthoma elasticum","volume":"27","author":"Gheduzzi","year":"2003","journal-title":"Ultrastruct Pathol"},{"key":"10.1016\/j.survophthal.2008.12.006_bib40","doi-asserted-by":"crossref","first-page":"792","DOI":"10.1001\/archopht.1965.00970030794007","article-title":"Mottled fundus oculi in pseudoxanthoma elasticum; a report on two siblings","volume":"73","author":"Gills","year":"1965","journal-title":"Arch Ophthalmol"},{"key":"10.1016\/j.survophthal.2008.12.006_bib41","doi-asserted-by":"crossref","first-page":"1763","DOI":"10.1093\/hmg\/ddi183","article-title":"Disruption of Abcc6 in the mouse: novel insight in the pathogenesis of pseudoxanthoma elasticum","volume":"14","author":"Gorgels","year":"2005","journal-title":"Hum Mol Genet"},{"issue":"12","key":"10.1016\/j.survophthal.2008.12.006_bib42","doi-asserted-by":"crossref","first-page":"984","DOI":"10.1007\/s00109-005-0693-x","article-title":"Elevated xylosyltransferase I activities in pseudoxanthoma elasticum (PXE) patients as a marker of stimulated proteoglycan biosynthesis","volume":"83","author":"Gotting","year":"2005","journal-title":"J Mol Med"},{"key":"10.1016\/j.survophthal.2008.12.006_bib43","doi-asserted-by":"crossref","first-page":"122","DOI":"10.1038\/labinvest.3700004","article-title":"Assessment of a rapid-cycle PCR assay for the identification of the recurrent c.3421C>T mutation in the ABCC6 gene in pseudoxanthoma elasticum patients","volume":"84","author":"Gotting","year":"2004","journal-title":"Lab Invest"},{"key":"10.1016\/j.survophthal.2008.12.006_bib44","doi-asserted-by":"crossref","first-page":"919","DOI":"10.1046\/j.1523-1747.1999.00590.x","article-title":"Serum xylosyltransferase: a new biochemical marker of the sclerotic process in systemic sclerosis","volume":"112","author":"Gotting","year":"1999","journal-title":"J Invest Dermatol"},{"key":"10.1016\/j.survophthal.2008.12.006_bib45","doi-asserted-by":"crossref","first-page":"2805","DOI":"10.1056\/NEJMoa042760","article-title":"Pegaptanib for neovascular age-related macular degeneration","volume":"351","author":"Gragoudas","year":"2004","journal-title":"N\u00a0Engl J Med"},{"key":"10.1016\/j.survophthal.2008.12.006_bib46","doi-asserted-by":"crossref","first-page":"472","DOI":"10.1111\/j.1755-3768.1958.tb00822.x","article-title":"Color photographs of angioid streaks in the late stages","volume":"36","author":"Groenblad","year":"1958","journal-title":"Acta Ophthalmol (Copenh)"},{"key":"10.1016\/j.survophthal.2008.12.006_bib47","doi-asserted-by":"crossref","first-page":"329","DOI":"10.1111\/j.1755-3768.1929.tb07934.x","article-title":"Angioid streaks - Pseudoxanthoma elasticum; vorl\u00e4ufig Mitteilung","volume":"7","author":"Groenblad","year":"1929","journal-title":"Acta Ophthalmol"},{"key":"10.1016\/j.survophthal.2008.12.006_bib48","doi-asserted-by":"crossref","first-page":"613","DOI":"10.1007\/BF00416348","article-title":"[Osteitis deformans (Paget)\u2014angioid streaks (Knapp)\u2014pseudoxanthoma elasticum (Darier)\u2014manifestations of a common systemic disease?]","volume":"50","author":"Gross","year":"1959","journal-title":"Arch Orthop Unfallchir"},{"key":"10.1016\/j.survophthal.2008.12.006_bib49","doi-asserted-by":"crossref","first-page":"19","DOI":"10.1111\/j.1525-1470.1993.tb00005.x","article-title":"Juvenile pseudoxanthoma elasticum: recognition and management","volume":"10","author":"Hacker","year":"1993","journal-title":"Pediatr Dermatol"},{"key":"10.1016\/j.survophthal.2008.12.006_bib50","doi-asserted-by":"crossref","first-page":"852","DOI":"10.1046\/j.1365-2141.2003.04484.x","article-title":"Acquired Pseudoxanthoma elasticum-like syndrome in beta-thalassaemia patients","volume":"122","author":"Hamlin","year":"2003","journal-title":"Br J Haematol"},{"key":"10.1016\/j.survophthal.2008.12.006_bib51","doi-asserted-by":"crossref","first-page":"1115","DOI":"10.1007\/s00417-005-1193-y","article-title":"Photodynamic therapy with verteporfin for choroidal neovascularization associated with angioid streaks","volume":"243","author":"Heimann","year":"2005","journal-title":"Graefes Arch Clin Exp Ophthalmol"},{"key":"10.1016\/j.survophthal.2008.12.006_bib52","doi-asserted-by":"crossref","first-page":"140","DOI":"10.1007\/s00109-004-0588-2","article-title":"New ABCC6 gene mutations in German pseudoxanthoma elasticum patients","volume":"83","author":"Hendig","year":"2005","journal-title":"J Mol Med"},{"key":"10.1016\/j.survophthal.2008.12.006_bib53","doi-asserted-by":"crossref","first-page":"79","DOI":"10.1136\/bjo.78.1.79-a","article-title":"Dark adaptation and scotopic perimetry over peau dorange in pseudoxanthoma elasticum","volume":"78","author":"Holz","year":"1994","journal-title":"Br J Ophthalmol"},{"key":"10.1016\/j.survophthal.2008.12.006_bib54","doi-asserted-by":"crossref","first-page":"1824","DOI":"10.1167\/iovs.02-0981","article-title":"Analysis of the frequent R1141X mutation in the ABCC6 gene in pseudoxanthoma elasticum","volume":"44","author":"Hu","year":"2003","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"10.1016\/j.survophthal.2008.12.006_bib55","doi-asserted-by":"crossref","first-page":"215","DOI":"10.1038\/sj.ejhg.5200953","article-title":"ABCC6\/MRP6 mutations: further insight into the molecular pathology of pseudoxanthoma elasticum","volume":"11","author":"Hu","year":"2003","journal-title":"Eur J Hum Genet"},{"key":"10.1016\/j.survophthal.2008.12.006_bib56","doi-asserted-by":"crossref","first-page":"424","DOI":"10.1016\/S0039-6257(03)00053-5","article-title":"Pseudoxanthoma elasticum: a clinical, histopathological, and molecular update","volume":"48","author":"Hu","year":"2003","journal-title":"Surv Ophthalmol"},{"key":"10.1016\/j.survophthal.2008.12.006_bib57","doi-asserted-by":"crossref","first-page":"16860","DOI":"10.1074\/jbc.M110918200","article-title":"Loss of ATP-dependent transport activity in pseudoxanthoma elasticum-associated mutants of human ABCC6 (MRP6)","volume":"277","author":"Ilias","year":"2002","journal-title":"J Biol Chem"},{"key":"10.1016\/j.survophthal.2008.12.006_bib58","doi-asserted-by":"crossref","first-page":"191","DOI":"10.1007\/s001050050569","article-title":"[Pseudoxanthoma elasticum. Skin changes as a marker of systemic illness]","volume":"48","author":"Jacobi","year":"1997","journal-title":"Hautarzt"},{"key":"10.1016\/j.survophthal.2008.12.006_bib59","doi-asserted-by":"crossref","first-page":"93","DOI":"10.1001\/archopht.1987.01060010099039","article-title":"Calcification of Bruchs membrane in angioid streaks with homozygous sickle cell disease","volume":"105","author":"Jampol","year":"1987","journal-title":"Arch Ophthalmol"},{"key":"10.1016\/j.survophthal.2008.12.006_bib60","doi-asserted-by":"crossref","first-page":"311","DOI":"10.1007\/BF00409836","article-title":"Bruchs membrane in pseudoxanthoma elasticum. Histochemical, ultrastructural, and x-ray microanalytical study of the membrane and angioid streak areas","volume":"203","author":"Jensen","year":"1977","journal-title":"Albrecht Von Graefes Arch Klin Exp Ophthalmol"},{"key":"10.1016\/j.survophthal.2008.12.006_bib61","doi-asserted-by":"crossref","first-page":"360","DOI":"10.1016\/S0002-9394(02)01626-4","article-title":"Photodynamic therapy with verteporfin for choroidal neovascularization in patients with angioid streaks","volume":"134","author":"Karacorlu","year":"2002","journal-title":"Am J Ophthalmol"},{"key":"10.1016\/j.survophthal.2008.12.006_bib62","doi-asserted-by":"crossref","first-page":"51","DOI":"10.1517\/14622416.2.1.51","article-title":"ABC drug transporters: hereditary polymorphisms and pharmacological impact in MDR1, MRP1 and MRP2","volume":"2","author":"Kerb","year":"2001","journal-title":"Pharmacogenomics"},{"key":"10.1016\/j.survophthal.2008.12.006_bib63","first-page":"289","article-title":"On the formation of dark angioid streaks as an unusual metamorphosis of retinal hemorrage","volume":"21","author":"Knapp","year":"1892","journal-title":"Arch Ophthalmol"},{"key":"10.1016\/j.survophthal.2008.12.006_bib64","first-page":"175","article-title":"Expression of human MRP6, a homologue of the multidrug resistance protein gene MRP1, in tissues and cancer cells","volume":"59","author":"Kool","year":"1999","journal-title":"Cancer Res"},{"key":"10.1016\/j.survophthal.2008.12.006_bib65","doi-asserted-by":"crossref","first-page":"875","DOI":"10.1016\/0002-9394(73)90076-7","article-title":"Precursors of angioid streaks","volume":"76","author":"Krill","year":"1973","journal-title":"Am J Ophthalmol"},{"key":"10.1016\/j.survophthal.2008.12.006_bib66","doi-asserted-by":"crossref","first-page":"69","DOI":"10.1177\/112067210501500111","article-title":"Photodynamic therapy with verteporfin of choroidal neovascularization in angioid streaks: conventional versus early retreatment","volume":"15","author":"Ladas","year":"2005","journal-title":"Eur J Ophthalmol"},{"key":"10.1016\/j.survophthal.2008.12.006_bib67","doi-asserted-by":"crossref","first-page":"463","DOI":"10.1007\/s00347-006-1352-5","article-title":"[Intravitreal bevacizumab for neovascular age-related macular degeneration]","volume":"103","author":"Ladewig","year":"2006","journal-title":"Ophthalmologe"},{"key":"10.1016\/j.survophthal.2008.12.006_bib68","doi-asserted-by":"crossref","first-page":"346","DOI":"10.1007\/s004170050089","article-title":"Comparison of fluorescein and indocyanine green angiography in angioid streaks","volume":"236","author":"Lafaut","year":"1998","journal-title":"Graefes Arch Clin Exp Ophthalmol"},{"key":"10.1016\/j.survophthal.2008.12.006_bib69","first-page":"21","article-title":"Indocyanine green angiography in angioid streaks","volume":"265","author":"Lafaut","year":"1997","journal-title":"Bull Soc Belge Ophtalmol"},{"key":"10.1016\/j.survophthal.2008.12.006_bib70","doi-asserted-by":"crossref","first-page":"754","DOI":"10.1136\/adc.2004.062075","article-title":"Pseudoxanthoma elasticum","volume":"90","author":"Laube","year":"2005","journal-title":"Arch Dis Child"},{"key":"10.1016\/j.survophthal.2008.12.006_bib71","doi-asserted-by":"crossref","first-page":"749","DOI":"10.1086\/323704","article-title":"A spectrum of ABCC6 mutations is responsible for pseudoxanthoma elasticum","volume":"69","author":"Le Saux","year":"2001","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.survophthal.2008.12.006_bib72","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1006\/geno.1999.5925","article-title":"Pseudoxanthoma elasticum maps to an 820-kb region of the p13. 1 region of chromosome 16","volume":"62","author":"Le Saux","year":"1999","journal-title":"Genomics"},{"key":"10.1016\/j.survophthal.2008.12.006_bib73","doi-asserted-by":"crossref","first-page":"223","DOI":"10.1038\/76102","article-title":"Mutations in a gene encoding an ABC transporter cause pseudoxanthoma elasticum","volume":"25","author":"Le Saux","year":"2000","journal-title":"Nat Genet"},{"key":"10.1016\/j.survophthal.2008.12.006_bib74","doi-asserted-by":"crossref","first-page":"1237","DOI":"10.1056\/NEJM199310213291705","article-title":"Brief report: occult pseudoxanthoma elasticum in patients with premature cardiovascular disease","volume":"329","author":"Lebwohl","year":"1993","journal-title":"N Engl J Med"},{"key":"10.1016\/j.survophthal.2008.12.006_bib75","doi-asserted-by":"crossref","first-page":"228","DOI":"10.1056\/NEJM198207223070406","article-title":"Pseudoxanthoma elasticum and mitral-valve prolapse","volume":"307","author":"Lebwohl","year":"1982","journal-title":"N Engl J Med"},{"key":"10.1016\/j.survophthal.2008.12.006_bib76","doi-asserted-by":"crossref","first-page":"1621","DOI":"10.1136\/bmj.311.7020.1621","article-title":"Clinical trials and rare diseases: a way out of a conundrum","volume":"311","author":"Lilford","year":"1995","journal-title":"BMJ"},{"key":"10.1016\/j.survophthal.2008.12.006_bib77","doi-asserted-by":"crossref","first-page":"414","DOI":"10.1016\/S0002-9394(14)71398-4","article-title":"Laser treatment of choroidal neovascularization in patients with angioid streaks","volume":"116","author":"Lim","year":"1993","journal-title":"Am J Ophthalmol"},{"key":"10.1016\/j.survophthal.2008.12.006_bib78","doi-asserted-by":"crossref","first-page":"381","DOI":"10.1097\/00000372-199908000-00013","article-title":"Late onset focal dermal elastosis: a distinct clinicopathologic entity?","volume":"21","author":"Limas","year":"1999","journal-title":"Am J Dermatopathol"},{"key":"10.1016\/j.survophthal.2008.12.006_bib79","doi-asserted-by":"crossref","first-page":"325","DOI":"10.1007\/s00347-006-1456-y","article-title":"[Intraocular application of bevacizumab for the treatment of choroidal neovascularization secondary to angioid streaks. ]","volume":"104","author":"Lommatzsch","year":"2007","journal-title":"Ophthalmologe"},{"key":"10.1016\/j.survophthal.2008.12.006_bib80","doi-asserted-by":"crossref","first-page":"634","DOI":"10.1124\/mol.57.3.634","article-title":"Transport function and hepatocellular localization of mrp6 in rat liver","volume":"57","author":"Madon","year":"2000","journal-title":"Mol Pharmacol"},{"key":"10.1016\/j.survophthal.2008.12.006_bib81","doi-asserted-by":"crossref","first-page":"57","DOI":"10.1159\/000310407","article-title":"Evolution of angioid streaks","volume":"207","author":"Mansour","year":"1993","journal-title":"Ophthalmologica"},{"key":"10.1016\/j.survophthal.2008.12.006_bib82","doi-asserted-by":"crossref","first-page":"306","DOI":"10.1016\/S0161-6420(88)33182-9","article-title":"Reticular-like pigmentary patterns in pseudoxanthoma elasticum","volume":"95","author":"McDonald","year":"1988","journal-title":"Ophthalmology"},{"key":"10.1016\/j.survophthal.2008.12.006_bib83","first-page":"653","article-title":"Atypical drusen in pseudoxanthoma elasticum","volume":"11","author":"Meislik","year":"1979","journal-title":"Ann Ophthalmol"},{"key":"10.1016\/j.survophthal.2008.12.006_bib84","doi-asserted-by":"crossref","first-page":"85","DOI":"10.1002\/humu.1157","article-title":"Pseudoxanthoma elasticum: Point mutations in the ABCC6 gene and a large deletion including also ABCC1 and MYH11","volume":"18","author":"Meloni","year":"2001","journal-title":"Hum Mutat"},{"key":"10.1016\/j.survophthal.2008.12.006_bib85","doi-asserted-by":"crossref","first-page":"763","DOI":"10.1097\/00006982-200410000-00013","article-title":"Outcome of choroidal neovascularization in angioid streaks after photodynamic therapy","volume":"24","author":"Menchini","year":"2004","journal-title":"Retina"},{"key":"10.1016\/j.survophthal.2008.12.006_bib86","doi-asserted-by":"crossref","first-page":"580","DOI":"10.1016\/S0002-9394(03)00338-6","article-title":"Therapeutic strategies in choroidal neovascularizations secondary to angioid streaks","volume":"136","author":"Mennel","year":"2003","journal-title":"Am J Ophthalmol"},{"key":"10.1016\/j.survophthal.2008.12.006_bib87","doi-asserted-by":"crossref","first-page":"98","DOI":"10.1111\/j.1365-4362.1988.tb01280.x","article-title":"Pseudoxanthoma elasticum","volume":"27","author":"Neldner","year":"1988","journal-title":"Int J Dermatol"},{"key":"10.1016\/j.survophthal.2008.12.006_bib88","doi-asserted-by":"crossref","first-page":"523","DOI":"10.1016\/S0190-9622(79)80096-1","article-title":"Localized acquired cutaneous pseudoxanthoma elasticum","volume":"1","author":"Neldner","year":"1979","journal-title":"J Am Acad Dermatol"},{"issue":"1","key":"10.1016\/j.survophthal.2008.12.006_bib89","doi-asserted-by":"crossref","first-page":"54","DOI":"10.1002\/path.1867","article-title":"Oxidative stress in fibroblasts >from patients with pseudoxanthoma elasticum: possible role in the pathogenesis of clinical manifestations","volume":"208","author":"Pasquali-Ronchetti","year":"2006","journal-title":"J Pathol"},{"key":"10.1016\/j.survophthal.2008.12.006_bib90","doi-asserted-by":"crossref","first-page":"307","DOI":"10.1159\/000250179","article-title":"Pseudoxanthoma elasticum. Biochemical and ultrastructural studies","volume":"163","author":"Pasquali-Ronchetti","year":"1981","journal-title":"Dermatologica"},{"key":"10.1016\/j.survophthal.2008.12.006_bib91","doi-asserted-by":"crossref","first-page":"852","DOI":"10.1001\/archopht.1959.04220050112018","article-title":"Angiod streaks and sickle cell anemia: a report of two cases","volume":"62","author":"Paton","year":"1959","journal-title":"Arch Ophthalmol"},{"key":"10.1016\/j.survophthal.2008.12.006_bib92","doi-asserted-by":"crossref","first-page":"12","DOI":"10.1097\/00006982-199701000-00003","article-title":"Laser photocoagulation of choroidal neovascularization in angioid streaks","volume":"17","author":"Pece","year":"1997","journal-title":"Retina"},{"key":"10.1016\/j.survophthal.2008.12.006_bib93","doi-asserted-by":"crossref","first-page":"261","DOI":"10.1111\/j.1600-0420.1997.tb00769.x","article-title":"Indocyanine green angiography in angioid streaks","volume":"75","author":"Pece","year":"1997","journal-title":"Acta Ophthalmol Scand"},{"key":"10.1016\/j.survophthal.2008.12.006_bib94","doi-asserted-by":"crossref","first-page":"526","DOI":"10.1111\/j.1755-3768.2007.00895.x","article-title":"Treatment of choroidal neovascularization using intravitreal bevacizumab","volume":"85","author":"Pedersen","year":"2007","journal-title":"Acta Ophthalmol Scand"},{"key":"10.1016\/j.survophthal.2008.12.006_bib95","doi-asserted-by":"crossref","first-page":"239","DOI":"10.1159\/000310498","article-title":"Echographic diagnosis of Drusen of the optic nerve head in patients with angioid streaks","volume":"208","author":"Pierro","year":"1994","journal-title":"Ophthalmologica"},{"key":"10.1016\/j.survophthal.2008.12.006_bib96","doi-asserted-by":"crossref","first-page":"403","DOI":"10.1002\/ajmg.a.20632","article-title":"Does autosomal dominant pseudoxanthoma elasticum exist?","volume":"126","author":"Plomp","year":"2004","journal-title":"Am J Med Genet A"},{"key":"10.1016\/j.survophthal.2008.12.006_bib97","doi-asserted-by":"crossref","first-page":"493","DOI":"10.1111\/j.1365-2133.1975.tb03117.x","article-title":"Historical evidence for the genetic heterogeneity of pseudoxanthoma elasticum","volume":"92","author":"Pope","year":"1975","journal-title":"Br J Dermatol"},{"key":"10.1016\/j.survophthal.2008.12.006_bib98","doi-asserted-by":"crossref","first-page":"51","DOI":"10.1016\/S0925-4439(00)00007-7","article-title":"Abnormal phenotype of in vitro dermal fibroblasts from patients with Pseudoxanthoma elasticum (PXE)","volume":"1501","author":"Quaglino","year":"2000","journal-title":"Biochim Biophys Acta"},{"key":"10.1016\/j.survophthal.2008.12.006_bib99","doi-asserted-by":"crossref","first-page":"136","DOI":"10.1016\/S0002-9394(14)73865-6","article-title":"Indocyanine green videoangiography of angioid streaks","volume":"119","author":"Quaranta","year":"1995","journal-title":"Am J Ophthalmol"},{"key":"10.1016\/j.survophthal.2008.12.006_bib100","doi-asserted-by":"crossref","first-page":"48","DOI":"10.1111\/j.1399-0004.1994.tb03990.x","article-title":"Exclusion of an elastin gene (ELN) mutation as the cause of pseudoxanthoma elasticum (PXE) in one family","volume":"45","author":"Raybould","year":"1994","journal-title":"Clin Genet"},{"key":"10.1016\/j.survophthal.2008.12.006_bib101","doi-asserted-by":"crossref","first-page":"235","DOI":"10.1002\/ajmg.1320190205","article-title":"Pseudoxanthoma elasticum: high calcium intake in early life correlates with severity","volume":"19","author":"Renie","year":"1984","journal-title":"Am J Med Genet"},{"key":"10.1016\/j.survophthal.2008.12.006_bib102","first-page":"491","article-title":"Observation pour servir \u00e0 l'histoire de la ch\u00e9loide diffuse xanthelmique","volume":"2","author":"Rigal","year":"1881","journal-title":"Annales de dermatologie et de syphiligraphie"},{"key":"10.1016\/j.survophthal.2008.12.006_bib103","doi-asserted-by":"crossref","first-page":"6001","DOI":"10.1073\/pnas.100041297","article-title":"Pseudoxanthoma elasticum: mutations in the MRP6 gene encoding a transmembrane ATP-binding cassette (ABC) transporter","volume":"97","author":"Ringpfeil","year":"2000","journal-title":"Proc Natl Acad Sci USA"},{"key":"10.1016\/j.survophthal.2008.12.006_bib104","doi-asserted-by":"crossref","first-page":"332","DOI":"10.1046\/j.1523-1747.2000.00abs.x","article-title":"Abstracts: mutations in the MRP6 gene cause pseudoxanthoma elasticum","volume":"115","author":"Ringpfeil","year":"2000","journal-title":"J Invest Dermatol"},{"key":"10.1016\/j.survophthal.2008.12.006_bib105","doi-asserted-by":"crossref","first-page":"642","DOI":"10.1086\/318807","article-title":"Compound heterozygosity for a recurrent 16. 5-kb Alu-mediated deletion mutation and single-base-pair substitutions in the ABCC6 gene results in pseudoxanthoma elasticum","volume":"68","author":"Ringpfeil","year":"2001","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.survophthal.2008.12.006_bib106","doi-asserted-by":"crossref","first-page":"221","DOI":"10.1034\/j.1600-0625.2001.100401.x","article-title":"Molecular genetics of pseudoxanthoma elasticum","volume":"10","author":"Ringpfeil","year":"2001","journal-title":"Exp Dermatol"},{"key":"10.1016\/j.survophthal.2008.12.006_bib107","doi-asserted-by":"crossref","first-page":"1419","DOI":"10.1056\/NEJMoa054481","article-title":"Ranibizumab for neovascular age-related macular degeneration","volume":"355","author":"Rosenfeld","year":"2006","journal-title":"N Engl J Med"},{"key":"10.1016\/j.survophthal.2008.12.006_bib108","doi-asserted-by":"crossref","first-page":"390","DOI":"10.1016\/S0002-9394(00)00809-6","article-title":"Macular translocation for subfoveal choroidal neovascularization in angioid streaks","volume":"131","author":"Roth","year":"2001","journal-title":"Am J Ophthalmol"},{"key":"10.1016\/j.survophthal.2008.12.006_bib109","first-page":"571","article-title":"Pseudoxanthoma elasticum with severe cardiovascular disease in a child","volume":"127","author":"Schachner","year":"1974","journal-title":"Am J Dis Child"},{"key":"10.1016\/j.survophthal.2008.12.006_bib110","first-page":"1290","article-title":"[Groenblad-Strandberg syndrome]","volume":"59","author":"Schneider","year":"1984","journal-title":"Z Hautkr"},{"key":"10.1016\/j.survophthal.2008.12.006_bib111","doi-asserted-by":"crossref","first-page":"677","DOI":"10.1001\/archopht.1941.00870160153016","article-title":"Angioid streaks","volume":"26","author":"Scholz","year":"1941","journal-title":"Arch Ophthalmol"},{"key":"10.1016\/j.survophthal.2008.12.006_bib112","doi-asserted-by":"crossref","first-page":"424","DOI":"10.1159\/000087900","article-title":"Analysis of sequence variations in the ABCC6 Gene among patients with abdominal aortic aneurysm and pseudoxanthoma elasticum","volume":"42","author":"Schulz","year":"2005","journal-title":"J Vasc Res"},{"key":"10.1016\/j.survophthal.2008.12.006_bib113","doi-asserted-by":"crossref","first-page":"1333","DOI":"10.1001\/archopht.116.10.1333","article-title":"Chorioretinal vascular abnormalities associated with angioid streaks and pseudoxanthoma elasticum","volume":"116","author":"Secretan","year":"1998","journal-title":"Arch Ophthalmol"},{"key":"10.1016\/j.survophthal.2008.12.006_bib114","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/S0002-9394(02)01835-4","article-title":"Photodynamic therapy using verteporfin for choroidal neovascularization in angioid streaks","volume":"135","author":"Shaikh","year":"2003","journal-title":"Am J Ophthalmol"},{"key":"10.1016\/j.survophthal.2008.12.006_bib115","doi-asserted-by":"crossref","first-page":"534","DOI":"10.1067\/mjd.2001.112401","article-title":"Pseudoxanthoma elasticum: significance of limited phenotypic expression in parents of affected offspring","volume":"44","author":"Sherer","year":"2001","journal-title":"J Am Acad Dermatol"},{"key":"10.1016\/j.survophthal.2008.12.006_bib116","doi-asserted-by":"crossref","first-page":"257","DOI":"10.1136\/bjo.59.5.257","article-title":"Angioid streaks. I. Ophthalmoscopic variations and diagnostic problems","volume":"59","author":"Shields","year":"1975","journal-title":"Br J Ophthalmol"},{"key":"10.1016\/j.survophthal.2008.12.006_bib117","first-page":"301","article-title":"Prognosis and therapy of angioid streaks","volume":"95","author":"Shilling","year":"1975","journal-title":"Trans Ophthalmol Soc U K"},{"key":"10.1016\/j.survophthal.2008.12.006_bib118","doi-asserted-by":"crossref","first-page":"243","DOI":"10.1023\/A:1025433431654","article-title":"Fundus autofluorescence in patients with pseudoxanthoma elasticum","volume":"24","author":"Shiraki","year":"2001","journal-title":"Int Ophthalmol"},{"key":"10.1016\/j.survophthal.2008.12.006_bib119","doi-asserted-by":"crossref","first-page":"327","DOI":"10.1001\/archopht.118.3.327","article-title":"A preliminary study of photodynamic therapy using verteporfin for choroidal neovascularization in pathologic myopia, ocular histoplasmosis syndrome, angioid streaks, and idiopathic causes","volume":"118","author":"Sickenberg","year":"2000","journal-title":"Arch Ophthalmol"},{"key":"10.1016\/j.survophthal.2008.12.006_bib120","doi-asserted-by":"crossref","first-page":"282","DOI":"10.1007\/s001090000114","article-title":"Mutations of the gene encoding the transmembrane transporter protein ABC-C6 cause pseudoxanthoma elasticum","volume":"78","author":"Struk","year":"2000","journal-title":"J Mol Med"},{"key":"10.1016\/j.survophthal.2008.12.006_bib121","doi-asserted-by":"crossref","first-page":"1823","DOI":"10.1093\/hmg\/6.11.1823","article-title":"Mapping of both autosomal recessive and dominant variants of pseudoxanthoma elasticum to chromosome 16p13.1","volume":"6","author":"Struk","year":"1997","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.survophthal.2008.12.006_bib122","doi-asserted-by":"crossref","first-page":"47","DOI":"10.1136\/bmj.327.7405.47","article-title":"Strategy for randomised clinical trials in rare cancers","volume":"327","author":"Tan","year":"2003","journal-title":"BMJ"},{"key":"10.1016\/j.survophthal.2008.12.006_bib123","doi-asserted-by":"crossref","first-page":"835","DOI":"10.1111\/j.1600-0420.2006.00762.x","article-title":"Choroidal neovascularization treated with intravitreal injection of bevacizumab (Avastin) in angioid streaks","volume":"84","author":"Teixeira","year":"2006","journal-title":"Acta Ophthalmol Scand"},{"key":"10.1016\/j.survophthal.2008.12.006_bib124","doi-asserted-by":"crossref","first-page":"1384","DOI":"10.1016\/S0161-6420(94)31172-9","article-title":"Visual results after surgical removal of subfoveal choroidal neovascular membranes","volume":"101","author":"Thomas","year":"1994","journal-title":"Ophthalmology"},{"key":"10.1016\/j.survophthal.2008.12.006_bib125","doi-asserted-by":"crossref","first-page":"773","DOI":"10.1161\/01.CIR.0000028420.27813.C0","article-title":"Frequent mutation in the ABCC6 gene (R1141X) is associated with a strong increase in the prevalence of coronary artery disease","volume":"106","author":"Trip","year":"2002","journal-title":"Circulation"},{"key":"10.1016\/j.survophthal.2008.12.006_bib126","doi-asserted-by":"crossref","first-page":"433","DOI":"10.1016\/S0733-8635(18)30806-4","article-title":"Connective tissue biochemistry of the aging dermis. Age-related alterations in collagen and elastin","volume":"4","author":"Uitto","year":"1986","journal-title":"Dermatol Clin"},{"key":"10.1016\/j.survophthal.2008.12.006_bib127","doi-asserted-by":"crossref","first-page":"9","DOI":"10.1111\/j.0022-202X.2004.22350.x","article-title":"Pseudoxanthoma elasticum-a connective tissue disease or a metabolic disorder at the genome\/environment interface?","volume":"122","author":"Uitto","year":"2004","journal-title":"J Invest Dermatol"},{"key":"10.1016\/j.survophthal.2008.12.006_bib128","doi-asserted-by":"crossref","first-page":"840","DOI":"10.1046\/j.1523-1747.1998.00188.x","article-title":"International Centennial Meeting on Pseudoxanthoma Elasticum: progress in PXE research","volume":"110","author":"Uitto","year":"1998","journal-title":"J Invest Dermatol"},{"key":"10.1016\/j.survophthal.2008.12.006_bib129","doi-asserted-by":"crossref","first-page":"13","DOI":"10.1016\/S1471-4914(00)01869-4","article-title":"Molecular genetics of pseudoxanthoma elasticum: a metabolic disorder at the environment-genome interface?","volume":"7","author":"Uitto","year":"2001","journal-title":"Trends Mol Med"},{"key":"10.1016\/j.survophthal.2008.12.006_bib130","doi-asserted-by":"crossref","first-page":"218","DOI":"10.1136\/bjo.77.4.218","article-title":"Photocoagulation of choroidal neovascular membranes with a diode laser","volume":"77","author":"Ulbig","year":"1993","journal-title":"Br J Ophthalmol"},{"key":"10.1016\/j.survophthal.2008.12.006_bib131","doi-asserted-by":"crossref","first-page":"830","DOI":"10.1101\/gr.7.8.830","article-title":"A locus for autosomal recessive pseudoxanthoma elasticum, with penetrance of vascular symptoms in carriers, maps to chromosome 16p13.1","volume":"7","author":"van Soest","year":"1997","journal-title":"Genome Res"},{"key":"10.1016\/j.survophthal.2008.12.006_bib132","doi-asserted-by":"crossref","first-page":"70","DOI":"10.1001\/archderm.1989.01670130072009","article-title":"The mineralization of elastic fibers and alterations of extracellular matrix in pseudoxanthoma elasticum. Ultrastructure, immunocytochemistry, and X-ray analysis","volume":"125","author":"Walker","year":"1989","journal-title":"Arch Dermatol"},{"key":"10.1016\/j.survophthal.2008.12.006_bib133","doi-asserted-by":"crossref","first-page":"204","DOI":"10.1016\/S0140-6736(07)61104-0","article-title":"Clinical update: new treatments for age-related macular degeneration","volume":"370","author":"Wong","year":"2007","journal-title":"Lancet"},{"key":"10.1016\/j.survophthal.2008.12.006_bib134","doi-asserted-by":"crossref","first-page":"215","DOI":"10.1038\/sj.eye.6701449","article-title":"Novel mutation in ABCC6 gene in a Japanese pedigree with pseudoxanthoma elasticum and retinitis pigmentosa","volume":"19","author":"Yoshida","year":"2005","journal-title":"Eye"}],"container-title":["Survey of Ophthalmology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0039625708002580?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0039625708002580?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,9,22]],"date-time":"2025-09-22T11:34:44Z","timestamp":1758540884000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0039625708002580"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2009,3]]},"references-count":134,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2009,3]]}},"alternative-id":["S0039625708002580"],"URL":"https:\/\/doi.org\/10.1016\/j.survophthal.2008.12.006","relation":{},"ISSN":["0039-6257"],"issn-type":[{"value":"0039-6257","type":"print"}],"subject":[],"published":{"date-parts":[[2009,3]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Pseudoxanthoma Elasticum: Genetics, Clinical Manifestations and Therapeutic Approaches","name":"articletitle","label":"Article Title"},{"value":"Survey of Ophthalmology","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.survophthal.2008.12.006","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2009 Elsevier Inc. All rights reserved.","name":"copyright","label":"Copyright"}]}}