{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,22]],"date-time":"2026-10-22T10:17:36Z","timestamp":1792664256154,"version":"4.5.0"},"reference-count":16,"publisher":"Elsevier BV","issue":"5","license":[{"start":{"date-parts":[[2010,9,1]],"date-time":"2010-09-01T00:00:00Z","timestamp":1283299200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2010,9,1]],"date-time":"2010-09-01T00:00:00Z","timestamp":1283299200000},"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","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["European Journal of Medical Genetics"],"published-print":{"date-parts":[[2010,9]]},"DOI":"10.1016\/j.ejmg.2010.06.012","type":"journal-article","created":{"date-parts":[[2010,7,8]],"date-time":"2010-07-08T04:41:39Z","timestamp":1278564099000},"page":"309-313","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":41,"title":["Expanding the clinical spectrum of SLC29A3 gene defects"],"prefix":"10.1016","volume":"53","author":[{"given":"Ronen","family":"Spiegel","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Simon T.","family":"Cliffe","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael F.","family":"Buckley","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yanick J.","family":"Crow","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jill","family":"Urquhart","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yoseph","family":"Horovitz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yardena","family":"Tenenbaum-Rakover","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"William G.","family":"Newman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dian","family":"Donnai","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stavit A.","family":"Shalev","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.ejmg.2010.06.012_bib1","doi-asserted-by":"crossref","first-page":"347","DOI":"10.1007\/s11882-009-0051-0","article-title":"Autoimmunity in common variable immunodeficiency","volume":"9","author":"Agarwal","year":"2009","journal-title":"Curr. Allergy Asthma Rep."},{"key":"10.1016\/j.ejmg.2010.06.012_bib2","doi-asserted-by":"crossref","first-page":"15880","DOI":"10.1074\/jbc.M414337200","article-title":"Functional characterization of novel human and mouse equilibrative nucleoside transporters (hENT3 and mENT3) located in intracellular membranes","volume":"280","author":"Baldwin","year":"2005","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.ejmg.2010.06.012_bib3","doi-asserted-by":"crossref","first-page":"1179","DOI":"10.1111\/j.1464-5491.2009.02843.x","article-title":"Diabetes mellitus may be the earliest and sole manifestation of the H syndrome","volume":"26","author":"Broshtilova","year":"2009","journal-title":"Diabet. Med."},{"key":"10.1016\/j.ejmg.2010.06.012_bib4","doi-asserted-by":"crossref","first-page":"2257","DOI":"10.1093\/hmg\/ddp161","article-title":"SLC29A3 gene is mutated in pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome and interacts with the insulin signaling pathway","volume":"18","author":"Cliffe","year":"2009","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.ejmg.2010.06.012_bib5","doi-asserted-by":"crossref","first-page":"725","DOI":"10.1016\/j.jaad.2009.03.020","article-title":"Hyperpigmented, hypertrichotic, and sclerodermoid plaques: an unusual variant of Muckle-Wells syndrome","volume":"61","author":"El-Darouti","year":"2009","journal-title":"J. Am. Acad. Dermatol."},{"key":"10.1016\/j.ejmg.2010.06.012_bib6","doi-asserted-by":"crossref","first-page":"G910","DOI":"10.1152\/ajpgi.90672.2008","article-title":"Facilitated mitochondrial import of antiviral and anticancer nucleoside drugs by human equilibrative nucleoside transporter-3","volume":"296","author":"Govindarajan","year":"2009","journal-title":"Am. J. Physiol. Gastrointest. Liver Physiol."},{"key":"10.1016\/j.ejmg.2010.06.012_bib7","doi-asserted-by":"crossref","first-page":"193","DOI":"10.1111\/j.1399-5448.2008.00470.x","article-title":"Diabetes mellitus, exocrine pancreatic deficiency, hypertrichosis, hyperpigmentation, and chronic inflammation: confirmation of a syndrome","volume":"10","author":"Hussain","year":"2009","journal-title":"Pediatr. Diabetes"},{"key":"10.1016\/j.ejmg.2010.06.012_bib8","doi-asserted-by":"crossref","first-page":"145","DOI":"10.1111\/j.1525-1470.2006.00201.x","article-title":"POEMS in childhood","volume":"23","author":"Marina","year":"2006","journal-title":"Pediatr. Dermatol."},{"key":"10.1016\/j.ejmg.2010.06.012_bib9","doi-asserted-by":"crossref","first-page":"79","DOI":"10.1016\/j.jaad.2008.03.021","article-title":"The H syndrome: a genodermatosis characterized by indurated, hyperpigmented, and hypertrichotic skin with systemic manifestations","volume":"59","author":"Molho-Pessach","year":"2008","journal-title":"J. Am. Acad. Dermatol."},{"key":"10.1016\/j.ejmg.2010.06.012_bib10","doi-asserted-by":"crossref","first-page":"529","DOI":"10.1016\/j.ajhg.2008.09.013","article-title":"The H syndrome is caused by mutations in the nucleoside transporter hENT3","volume":"83","author":"Molho-Pessach","year":"2008","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ejmg.2010.06.012_bib11","doi-asserted-by":"crossref","first-page":"59","DOI":"10.1016\/j.jdermsci.2009.09.011","article-title":"The H syndrome: two novel mutations affecting the same amino acid residue of hENT3","volume":"57","author":"Molho-Pessach","year":"2010","journal-title":"J.\u00a0Dermatol. Sci."},{"key":"10.1016\/j.ejmg.2010.06.012_bib12","doi-asserted-by":"crossref","first-page":"3034","DOI":"10.1002\/ajmg.a.32564","article-title":"Geroderma Osteodysplastica maps to a 4\u00a0Mb Locus on chromosome 1q24","volume":"146","author":"Newman","year":"2008","journal-title":"Am. J. Med. Genet. A"},{"key":"10.1016\/j.ejmg.2010.06.012_bib13","doi-asserted-by":"crossref","first-page":"101","DOI":"10.1111\/j.1525-1470.2007.00352.x","article-title":"Pigmented hypertrichotic dermatosis and insulin dependent diabetes: manifestations of a unique genetic disorder?","volume":"24","author":"Prendiville","year":"2007","journal-title":"Pediatr. Dermatol."},{"key":"10.1016\/j.ejmg.2010.06.012_bib14","doi-asserted-by":"crossref","first-page":"306","DOI":"10.1097\/MED.0b013e3281e2c9fc","article-title":"The role of gonadotropin releasing hormone in normal and pathologic endocrine processes","volume":"14","author":"Rothman","year":"2007","journal-title":"Curr. Opin. Endocrinol. Diabetes Obes."},{"key":"10.1016\/j.ejmg.2010.06.012_bib15","doi-asserted-by":"crossref","first-page":"176","DOI":"10.1002\/ajmg.10328","article-title":"Molecular basis of autosomal recessive diseases among the Palestinian Arabs","volume":"109","author":"Zlotogora","year":"2002","journal-title":"Am. J. Med. Genet."},{"key":"10.1016\/j.ejmg.2010.06.012_bib16","doi-asserted-by":"crossref","first-page":"1644","DOI":"10.1002\/ajmg.a.31342","article-title":"Genetic disorders among Palestinian Arabs. 4: genetic clinics in the community","volume":"140","author":"Zlotogora","year":"2006","journal-title":"Am. J. Med. Genet. A"}],"container-title":["European Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1769721210000674?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1769721210000674?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T03:37:35Z","timestamp":1761709055000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1769721210000674"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2010,9]]},"references-count":16,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2010,9]]}},"alternative-id":["S1769721210000674"],"URL":"https:\/\/doi.org\/10.1016\/j.ejmg.2010.06.012","relation":{},"ISSN":["1769-7212"],"issn-type":[{"value":"1769-7212","type":"print"}],"subject":[],"published":{"date-parts":[[2010,9]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Expanding the clinical spectrum of SLC29A3 gene defects","name":"articletitle","label":"Article Title"},{"value":"European Journal of Medical Genetics","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ejmg.2010.06.012","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2010 Elsevier Masson SAS. All rights reserved.","name":"copyright","label":"Copyright"}]}}