{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T10:21:08Z","timestamp":1761733268900,"version":"build-2065373602"},"reference-count":14,"publisher":"Elsevier BV","issue":"4","license":[{"start":{"date-parts":[[2009,7,1]],"date-time":"2009-07-01T00:00:00Z","timestamp":1246406400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2009,7,1]],"date-time":"2009-07-01T00:00:00Z","timestamp":1246406400000},"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":[[2009,7]]},"DOI":"10.1016\/j.ejmg.2009.03.017","type":"journal-article","created":{"date-parts":[[2009,4,17]],"date-time":"2009-04-17T04:53:28Z","timestamp":1239944008000},"page":"239-241","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":12,"title":["Radial aplasia in CHARGE syndrome: A new association"],"prefix":"10.1016","volume":"52","author":[{"given":"E.M.M. Burkitt","family":"Wright","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R.","family":"O'Connor","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"B.A.","family":"Kerr","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.ejmg.2009.03.017_bib1","doi-asserted-by":"crossref","first-page":"1890","DOI":"10.1002\/ajmg.a.32376","article-title":"Expanding the \u201cE\u201d in CHARGE","volume":"146A","author":"Alazami","year":"2008","journal-title":"Am. J. Med. Genet. A"},{"key":"10.1016\/j.ejmg.2009.03.017_bib2","doi-asserted-by":"crossref","first-page":"159","DOI":"10.1177\/000992289803700302","article-title":"CHARGE association: an update and review for the primary pediatrician","volume":"37","author":"Blake","year":"1998","journal-title":"Clin. Pediatr. (Phila)"},{"key":"10.1016\/j.ejmg.2009.03.017_bib3","doi-asserted-by":"crossref","first-page":"523","DOI":"10.1038\/sj.eye.6700312","article-title":"Ocular coloboma and radial aplasia: syndrome or association","volume":"17","author":"Cazabon","year":"2003","journal-title":"Eye"},{"key":"10.1016\/j.ejmg.2009.03.017_bib4","doi-asserted-by":"crossref","first-page":"322","DOI":"10.1111\/j.1399-0004.1989.tb02952.x","article-title":"Radial ray defects and associated anomalies","volume":"35","author":"Cox","year":"1989","journal-title":"Clin. Genet."},{"key":"10.1016\/j.ejmg.2009.03.017_bib5","doi-asserted-by":"crossref","first-page":"112","DOI":"10.1111\/j.1399-0004.2007.00821.x","article-title":"Familial CHARGE syndrome because of CHD7 mutation: clinical intra- and interfamilial variability","volume":"72","author":"Delahaye","year":"2007","journal-title":"Clin. Genet."},{"key":"10.1016\/j.ejmg.2009.03.017_bib7","doi-asserted-by":"crossref","first-page":"309","DOI":"10.1002\/ajmg.a.30560","article-title":"An epidemiological analysis of CHARGE syndrome: preliminary results from a Canadian study","volume":"133","author":"Issekutz","year":"2005","journal-title":"Am. J. Med. Genet. A"},{"key":"10.1016\/j.ejmg.2009.03.017_bib8","doi-asserted-by":"crossref","first-page":"306","DOI":"10.1136\/jmg.2005.036061","article-title":"CHARGE syndrome: the phenotypic spectrum of mutations in the CHD7 gene","volume":"43","author":"Jongmans","year":"2006","journal-title":"J. Med. Genet."},{"key":"10.1016\/j.ejmg.2009.03.017_bib9","doi-asserted-by":"crossref","first-page":"65","DOI":"10.1111\/j.1399-0004.2008.01107.x","article-title":"CHD7 mutations in patients initially diagnosed with Kallmann syndrome \u2013 the clinical overlap with CHARGE syndrome","volume":"75","author":"Jongmans","year":"2009","journal-title":"Clin. Genet."},{"key":"10.1016\/j.ejmg.2009.03.017_bib10","doi-asserted-by":"crossref","first-page":"511","DOI":"10.1016\/j.ajhg.2008.09.005","article-title":"Mutations in CHD7, encoding a chromatin-remodeling protein, cause idiopathic hypogonadotropic hypogonadism and Kallmann syndrome","volume":"83","author":"Kim","year":"2008","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ejmg.2009.03.017_bib11","doi-asserted-by":"crossref","first-page":"303","DOI":"10.1086\/500273","article-title":"Spectrum of CHD7 mutations in 110 individuals with CHARGE syndrome and genotype\u2013phenotype correlation","volume":"78","author":"Lalani","year":"2006","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ejmg.2009.03.017_bib12","doi-asserted-by":"crossref","first-page":"179","DOI":"10.1002\/(SICI)1096-8628(19970120)68:2<179::AID-AJMG11>3.0.CO;2-R","article-title":"Limb anomalies in DiGeorge and CHARGE syndromes","volume":"68","author":"Prasad","year":"1997","journal-title":"Am. J. Med. Genet."},{"key":"10.1016\/j.ejmg.2009.03.017_bib13","doi-asserted-by":"crossref","first-page":"2712","DOI":"10.1002\/ajmg.a.32008","article-title":"Limb anomalies in patients with CHARGE syndrome: an expansion of the phenotype","volume":"143A","author":"Van de Laar","year":"2007","journal-title":"Am. J. Med. Genet. A"},{"key":"10.1016\/j.ejmg.2009.03.017_bib14","doi-asserted-by":"crossref","first-page":"955","DOI":"10.1038\/ng1407","article-title":"Mutations in a new member of the chromodomain gene family cause CHARGE syndrome","volume":"36","author":"Vissers","year":"2004","journal-title":"Nat. Genet."},{"year":"2001","series-title":"London Dysmorphology Database, Version 3.0","author":"Winter","key":"10.1016\/j.ejmg.2009.03.017_bib15"}],"container-title":["European Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1769721209000342?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1769721209000342?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T03:37:08Z","timestamp":1761709028000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1769721209000342"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2009,7]]},"references-count":14,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2009,7]]}},"alternative-id":["S1769721209000342"],"URL":"https:\/\/doi.org\/10.1016\/j.ejmg.2009.03.017","relation":{},"ISSN":["1769-7212"],"issn-type":[{"type":"print","value":"1769-7212"}],"subject":[],"published":{"date-parts":[[2009,7]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Radial aplasia in CHARGE syndrome: A new association","name":"articletitle","label":"Article Title"},{"value":"European Journal of Medical Genetics","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ejmg.2009.03.017","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2009 Elsevier Masson SAS. All rights reserved.","name":"copyright","label":"Copyright"}]}}