{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,29]],"date-time":"2026-10-29T17:50:52Z","timestamp":1793296252371,"version":"4.5.0"},"reference-count":192,"publisher":"Elsevier BV","issue":"7","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"},{"start":{"date-parts":[[2022,1,19]],"date-time":"2022-01-19T00:00:00Z","timestamp":1642550400000},"content-version":"vor","delay-in-days":4585,"URL":"http:\/\/www.elsevier.com\/open-access\/userlicense\/1.0\/"}],"content-domain":{"domain":["gimjournal.org","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Genetics in Medicine"],"published-print":{"date-parts":[[2009,7]]},"DOI":"10.1097\/gim.0b013e3181a53562","type":"journal-article","created":{"date-parts":[[2009,7,10]],"date-time":"2009-07-10T03:35:39Z","timestamp":1247196939000},"page":"473-487","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":391,"title":["Clinical and genetic aspects of primary ciliary dyskinesia\/Kartagener syndrome"],"prefix":"10.1016","volume":"11","author":[{"given":"Margaret W.","family":"Leigh","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jessica E.","family":"Pittman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Johnny L.","family":"Carson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thomas W.","family":"Ferkol","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sharon D.","family":"Dell","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stephanie D.","family":"Davis","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael R.","family":"Knowles","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maimoona A.","family":"Zariwala","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1097\/GIM.0b013e3181a53562_bb0010","author":"Katsuhara"},{"key":"10.1097\/GIM.0b013e3181a53562_bb0015","author":"Torgersen"},{"key":"10.1097\/GIM.0b013e3181a53562_bb0020","author":"Kartagener"},{"key":"10.1097\/GIM.0b013e3181a53562_bb0025","author":"Afzelius"},{"key":"10.1097\/GIM.0b013e3181a53562_bb0030","author":"Eliasson"},{"key":"10.1097\/GIM.0b013e3181a53562_bb0035","author":"Pedersen"},{"key":"10.1097\/GIM.0b013e3181a53562_bb0040","author":"Corbelli"},{"key":"10.1097\/GIM.0b013e3181a53562_bb0045","author":"Narang"},{"key":"10.1097\/GIM.0b013e3181a53562_bb0050","author":"Noone"},{"key":"10.1097\/GIM.0b013e3181a53562_bb0055","author":"Wodehouse"},{"key":"10.1097\/GIM.0b013e3181a53562_bb0060","author":"Goodenough"},{"key":"10.1097\/GIM.0b013e3181a53562_bb0065","author":"Mastronarde"},{"key":"10.1097\/GIM.0b013e3181a53562_bb0070","author":"Satir"},{"key":"10.1097\/GIM.0b013e3181a53562_bb0075","author":"Gilula"},{"key":"10.1097\/GIM.0b013e3181a53562_bb0080","author":"Carson"},{"key":"10.1097\/GIM.0b013e3181a53562_bb0085","doi-asserted-by":"crossref","unstructured":"Zhou H, Wang X, Brighton L, Hazucha M, Jaspers I, Carson JL. Increased nasal epithelial ciliary beat frequency associated with lifestyle tobacco smoke exposure. Inhal Toxicol. Available at: http:\/\/informapharmascience.com\/iht Accessed May 2 2009,","DOI":"10.1080\/08958370802555898"},{"key":"10.1097\/GIM.0b013e3181a53562_bb0090","author":"Li"},{"key":"10.1097\/GIM.0b013e3181a53562_bb0095","author":"Wyatt"},{"key":"10.1097\/GIM.0b013e3181a53562_bb0100","author":"Dirksen"},{"key":"10.1097\/GIM.0b013e3181a53562_bb0105","author":"Sanderson"},{"key":"10.1097\/GIM.0b013e3181a53562_bb0110","author":"Pazour"},{"key":"10.1097\/GIM.0b013e3181a53562_bb0115","author":"Pazour"},{"key":"10.1097\/GIM.0b013e3181a53562_bb0120","author":"Huang"},{"key":"10.1097\/GIM.0b013e3181a53562_bb0125","author":"Pazour"},{"key":"10.1097\/GIM.0b013e3181a53562_bb0130","author":"Beales"},{"key":"10.1097\/GIM.0b013e3181a53562_bb0135","author":"Badano"},{"key":"10.1097\/GIM.0b013e3181a53562_bb0140","author":"Fliegauf"},{"key":"10.1097\/GIM.0b013e3181a53562_bb0145","author":"Zariwala"},{"key":"10.1097\/GIM.0b013e3181a53562_bb0150","author":"Blouin"},{"key":"10.1097\/GIM.0b013e3181a53562_bb0155","author":"Bartoloni"},{"key":"10.1097\/GIM.0b013e3181a53562_bb0160","author":"Duriez"},{"key":"10.1097\/GIM.0b013e3181a53562_bb0165","author":"Omran"},{"key":"10.1097\/GIM.0b013e3181a53562_bb0170","author":"Pennarun"},{"key":"10.1097\/GIM.0b013e3181a53562_bb0175","author":"Pennarun"},{"key":"10.1097\/GIM.0b013e3181a53562_bb0180","author":"Loges"},{"key":"10.1097\/GIM.0b013e3181a53562_bb0185","author":"Olbrich"},{"key":"10.1097\/GIM.0b013e3181a53562_bb0190","author":"Schwabe"},{"key":"10.1097\/GIM.0b013e3181a53562_bb0195","author":"Fliegauf"},{"key":"10.1097\/GIM.0b013e3181a53562_bb0200","author":"Li"},{"key":"10.1097\/GIM.0b013e3181a53562_bb0205","author":"Luck"},{"key":"10.1097\/GIM.0b013e3181a53562_bb0210","author":"Ostrowski"},{"key":"10.1097\/GIM.0b013e3181a53562_bb0215","author":"Pazour"},{"key":"10.1097\/GIM.0b013e3181a53562_bb0220","author":"Piperno"},{"key":"10.1097\/GIM.0b013e3181a53562_bb0225","author":"Guichard"},{"key":"10.1097\/GIM.0b013e3181a53562_bb0230","author":"Zariwala"},{"key":"10.1097\/GIM.0b013e3181a53562_bb0235","author":"Zariwala"},{"key":"10.1097\/GIM.0b013e3181a53562_bb0240","series-title":"GeneReviews at GeneTests: Medical Genetics information Resource [database online]","first-page":"1993","author":"Zariwala","year":"2007"},{"key":"10.1097\/GIM.0b013e3181a53562_bb0245","author":"Failly"},{"key":"10.1097\/GIM.0b013e3181a53562_bb0250","author":"Omran"},{"key":"10.1097\/GIM.0b013e3181a53562_bb0255","author":"Bush"},{"key":"10.1097\/GIM.0b013e3181a53562_bb0260","author":"Hornef"},{"key":"10.1097\/GIM.0b013e3181a53562_bb0265","author":"Fliegauf"},{"key":"10.1097\/GIM.0b013e3181a53562_bb0270","first-page":"P-484","article-title":"No deleterious mutations were found in three genes (HFH4LC8,IC2) on human chromosome 17q in patients with primary ciliary dyskinesia","volume":"8","author":"Bartoloni","year":"2000","journal-title":"Eur J Hum Genet"},{"key":"10.1097\/GIM.0b013e3181a53562_bb0275","author":"Supp"},{"key":"10.1097\/GIM.0b013e3181a53562_bb0280","author":"Supp"},{"key":"10.1097\/GIM.0b013e3181a53562_bb0285","author":"Castleman"},{"key":"10.1097\/GIM.0b013e3181a53562_bb0290","author":"Yang"},{"key":"10.1097\/GIM.0b013e3181a53562_bb0295","author":"Curry"},{"key":"10.1097\/GIM.0b013e3181a53562_bb0300","author":"Budny"},{"key":"10.1097\/GIM.0b013e3181a53562_bb0305","author":"Ferrante"},{"key":"10.1097\/GIM.0b013e3181a53562_bb0310","author":"Romio"},{"key":"10.1097\/GIM.0b013e3181a53562_bb0315","author":"Moore"},{"key":"10.1097\/GIM.0b013e3181a53562_bb0320","author":"Zito"},{"key":"10.1097\/GIM.0b013e3181a53562_bb0325","author":"Iannaccone"},{"key":"10.1097\/GIM.0b013e3181a53562_bb0330","author":"Hong"},{"key":"10.1097\/GIM.0b013e3181a53562_bb0335","author":"Hong"},{"key":"10.1097\/GIM.0b013e3181a53562_bb0340","author":"De Scally"},{"key":"10.1097\/GIM.0b013e3181a53562_bb0345","author":"Edwards"},{"key":"10.1097\/GIM.0b013e3181a53562_bb0350","author":"Neil"},{"key":"10.1097\/GIM.0b013e3181a53562_bb0355","author":"Reichler"},{"key":"10.1097\/GIM.0b013e3181a53562_bb0360","author":"Watson"},{"key":"10.1097\/GIM.0b013e3181a53562_bb0365","author":"Roperto"},{"key":"10.1097\/GIM.0b013e3181a53562_bb0370","author":"Roperto"},{"key":"10.1097\/GIM.0b013e3181a53562_bb0375","author":"Torikata"},{"key":"10.1097\/GIM.0b013e3181a53562_bb0380","author":"Ibanez-Tallon"},{"key":"10.1097\/GIM.0b013e3181a53562_bb0385","author":"Tan"},{"key":"10.1097\/GIM.0b013e3181a53562_bb0390","author":"Layton"},{"key":"10.1097\/GIM.0b013e3181a53562_bb0395","author":"McNeish"},{"key":"10.1097\/GIM.0b013e3181a53562_bb0400","author":"Singh"},{"key":"10.1097\/GIM.0b013e3181a53562_bb0405","author":"Kobayashi"},{"key":"10.1097\/GIM.0b013e3181a53562_bb0410","author":"Lee"},{"key":"10.1097\/GIM.0b013e3181a53562_bb0415","author":"Davy"},{"key":"10.1097\/GIM.0b013e3181a53562_bb0420","author":"Lechtreck"},{"key":"10.1097\/GIM.0b013e3181a53562_bb0425","author":"Robinson"},{"key":"10.1097\/GIM.0b013e3181a53562_bb0430","author":"Smith"},{"key":"10.1097\/GIM.0b013e3181a53562_bb0435","author":"Tanaka"},{"key":"10.1097\/GIM.0b013e3181a53562_bb0440","author":"Neesen"},{"key":"10.1097\/GIM.0b013e3181a53562_bb0445","author":"Vernon"},{"key":"10.1097\/GIM.0b013e3181a53562_bb0450","author":"Maiti"},{"key":"10.1097\/GIM.0b013e3181a53562_bb0455","author":"Zhang"},{"key":"10.1097\/GIM.0b013e3181a53562_bb0460","author":"Zhang"},{"key":"10.1097\/GIM.0b013e3181a53562_bb0465","author":"Zhang"},{"key":"10.1097\/GIM.0b013e3181a53562_bb0470","author":"Sapiro"},{"key":"10.1097\/GIM.0b013e3181a53562_bb0475","author":"Zhang"},{"key":"10.1097\/GIM.0b013e3181a53562_bb0480","author":"Ibanez-Tallon"},{"key":"10.1097\/GIM.0b013e3181a53562_bb0485","author":"Zariwala"},{"key":"10.1097\/GIM.0b013e3181a53562_bb0490","author":"Bertocci"},{"key":"10.1097\/GIM.0b013e3181a53562_bb0495","author":"Sleigh"},{"key":"10.1097\/GIM.0b013e3181a53562_bb0500","author":"Knowles"},{"key":"10.1097\/GIM.0b013e3181a53562_bb0505","author":"Wanner"},{"key":"10.1097\/GIM.0b013e3181a53562_bb0510","author":"Bush"},{"key":"10.1097\/GIM.0b013e3181a53562_bb0515","author":"Ferkol"},{"key":"10.1097\/GIM.0b013e3181a53562_bb0520","author":"Hossain"},{"key":"10.1097\/GIM.0b013e3181a53562_bb0525","author":"Coren"},{"key":"10.1097\/GIM.0b013e3181a53562_bb0530","author":"Jain"},{"key":"10.1097\/GIM.0b013e3181a53562_bb0535","first-page":"A798","article-title":"Primary ciliary dyskinesia: characteristics of disease in children under six","volume":"177","author":"Pittman","year":"2008","journal-title":"Am J Respir Crit Care Med"},{"key":"10.1097\/GIM.0b013e3181a53562_bb0540","author":"Morini"},{"key":"10.1097\/GIM.0b013e3181a53562_bb0545","author":"Brueckner"},{"key":"10.1097\/GIM.0b013e3181a53562_bb0550","author":"El Zein"},{"key":"10.1097\/GIM.0b013e3181a53562_bb0555","author":"Kennedy"},{"key":"10.1097\/GIM.0b013e3181a53562_bb0560","author":"Raman"},{"key":"10.1097\/GIM.0b013e3181a53562_bb0565","author":"Hadfield"},{"key":"10.1097\/GIM.0b013e3181a53562_bb0570","author":"Noone"},{"key":"10.1097\/GIM.0b013e3181a53562_bb0575","author":"Kennedy"},{"key":"10.1097\/GIM.0b013e3181a53562_bb0580","author":"Nadel"},{"key":"10.1097\/GIM.0b013e3181a53562_bb0585","author":"Brown"},{"key":"10.1097\/GIM.0b013e3181a53562_bb0590","author":"Sweeney"},{"key":"10.1097\/GIM.0b013e3181a53562_bb0595","author":"Graeter"},{"key":"10.1097\/GIM.0b013e3181a53562_bb0600","author":"McManus"},{"key":"10.1097\/GIM.0b013e3181a53562_bb0605","author":"Afzelius"},{"key":"10.1097\/GIM.0b013e3181a53562_bb0610","author":"Munro"},{"key":"10.1097\/GIM.0b013e3181a53562_bb0615","author":"Halbert"},{"key":"10.1097\/GIM.0b013e3181a53562_bb0620","author":"De Santi"},{"key":"10.1097\/GIM.0b013e3181a53562_bb0625","author":"Greenstone"},{"key":"10.1097\/GIM.0b013e3181a53562_bb0630","author":"Krawczynski"},{"key":"10.1097\/GIM.0b013e3181a53562_bb0635","author":"Driscoll"},{"key":"10.1097\/GIM.0b013e3181a53562_bb0640","author":"Gnanaratnem"},{"key":"10.1097\/GIM.0b013e3181a53562_bb0645","author":"Cole"},{"key":"10.1097\/GIM.0b013e3181a53562_bb0650","author":"Fan"},{"key":"10.1097\/GIM.0b013e3181a53562_bb0655","series-title":"Kendig's disorders of the respiratory tract in children","first-page":"666","article-title":"Interstitial lung disease","author":"Leland","year":"2006"},{"key":"10.1097\/GIM.0b013e3181a53562_bb0660","author":"Bush"},{"key":"10.1097\/GIM.0b013e3181a53562_bb0665","author":"Eriksson"},{"key":"10.1097\/GIM.0b013e3181a53562_bb0670","author":"Brueckner"},{"key":"10.1097\/GIM.0b013e3181a53562_bb0675","author":"Leigh"},{"key":"10.1097\/GIM.0b013e3181a53562_bb0680","author":"Davis"},{"key":"10.1097\/GIM.0b013e3181a53562_bb0685","author":"Phillips"},{"key":"10.1097\/GIM.0b013e3181a53562_bb0690","author":"Rosenfeld"},{"key":"10.1097\/GIM.0b013e3181a53562_bb0695","author":"Davies"},{"key":"10.1097\/GIM.0b013e3181a53562_bb0700","author":"Davis"},{"key":"10.1097\/GIM.0b013e3181a53562_bb0705","author":"Bacharier"},{"key":"10.1097\/GIM.0b013e3181a53562_bb0710","author":"Kercsmar"},{"key":"10.1097\/GIM.0b013e3181a53562_bb0715","author":"Weinberger"},{"key":"10.1097\/GIM.0b013e3181a53562_bb0720","author":"Stutts"},{"key":"10.1097\/GIM.0b013e3181a53562_bb0725","author":"Stutts"},{"key":"10.1097\/GIM.0b013e3181a53562_bb0730","author":"del Rosario"},{"key":"10.1097\/GIM.0b013e3181a53562_bb0735","author":"Tolia"},{"key":"10.1097\/GIM.0b013e3181a53562_bb0740","author":"Platzker"},{"key":"10.1097\/GIM.0b013e3181a53562_bb0745","author":"Buckley"},{"key":"10.1097\/GIM.0b013e3181a53562_bb0750","author":"Hernandez"},{"key":"10.1097\/GIM.0b013e3181a53562_bb0755","author":"Chua"},{"key":"10.1097\/GIM.0b013e3181a53562_bb0760","author":"Camner"},{"key":"10.1097\/GIM.0b013e3181a53562_bb0765","author":"de Iongh"},{"key":"10.1097\/GIM.0b013e3181a53562_bb0770","author":"Escudier"},{"key":"10.1097\/GIM.0b013e3181a53562_bb0775","author":"Rutland"},{"key":"10.1097\/GIM.0b013e3181a53562_bb0780","author":"Schneeberger"},{"key":"10.1097\/GIM.0b013e3181a53562_bb0785","author":"Sturgess"},{"key":"10.1097\/GIM.0b013e3181a53562_bb0790","author":"Sturgess"},{"key":"10.1097\/GIM.0b013e3181a53562_bb0795","author":"Carson"},{"key":"10.1097\/GIM.0b013e3181a53562_bb0800","author":"Rutland"},{"key":"10.1097\/GIM.0b013e3181a53562_bb0805","author":"Wisseman"},{"key":"10.1097\/GIM.0b013e3181a53562_bb0810","author":"Kroon"},{"key":"10.1097\/GIM.0b013e3181a53562_bb0815","author":"Lundberg"},{"key":"10.1097\/GIM.0b013e3181a53562_bb0820","author":"Jain"},{"key":"10.1097\/GIM.0b013e3181a53562_bb0825","author":"Hibbs"},{"key":"10.1097\/GIM.0b013e3181a53562_bb0830","author":"Lundberg"},{"key":"10.1097\/GIM.0b013e3181a53562_bb0835","author":"O'Callaghan"},{"key":"10.1097\/GIM.0b013e3181a53562_bb0840","author":"Struben"},{"key":"10.1097\/GIM.0b013e3181a53562_bb0845","author":"Corbelli"},{"key":"10.1097\/GIM.0b013e3181a53562_bb0850","author":"Piacentini"},{"key":"10.1097\/GIM.0b013e3181a53562_bb0855","author":"Olbrich"},{"key":"10.1097\/GIM.0b013e3181a53562_bb0860","author":"Ellerman"},{"key":"10.1097\/GIM.0b013e3181a53562_bb0865","author":"Flume"},{"key":"10.1097\/GIM.0b013e3181a53562_bb0870","author":"Hansell"},{"key":"10.1097\/GIM.0b013e3181a53562_bb0875","author":"Smit"},{"key":"10.1097\/GIM.0b013e3181a53562_bb0880","author":"Balkanli"},{"key":"10.1097\/GIM.0b013e3181a53562_bb0885","author":"Date"},{"key":"10.1097\/GIM.0b013e3181a53562_bb0890","author":"Majithia"},{"key":"10.1097\/GIM.0b013e3181a53562_bb0895","series-title":"Disease management handbook","author":"Mallarkey","year":"1999"},{"key":"10.1097\/GIM.0b013e3181a53562_bb0900","author":"Davis"},{"key":"10.1097\/GIM.0b013e3181a53562_bb0905","author":"Mahadeva"},{"key":"10.1097\/GIM.0b013e3181a53562_bb0910","author":"Walters"},{"key":"10.1097\/GIM.0b013e3181a53562_bb0915","author":"Praetorius"},{"key":"10.1097\/GIM.0b013e3181a53562_bb0920","author":"Dabdoub"},{"key":"10.1097\/GIM.0b013e3181a53562_bb0925","author":"Bartoloni"},{"issue":"suppl","key":"10.1097\/GIM.0b013e3181a53562_bb0930","first-page":"2440","article-title":"Primary ciliary dyskinesia\/Kartagener syndrome: searching for genes in a highly heterogeneous disorder","volume":"73","author":"Blouin","year":"2003","journal-title":"Am J Hum Genet"},{"key":"10.1097\/GIM.0b013e3181a53562_bb0935","author":"Horvath"},{"key":"10.1097\/GIM.0b013e3181a53562_bb0940","unstructured":"Gehrig C, Albrecht C, Duriaus Sail G, et al. Primary ciliary dyskinesia: mutation analysis in dynein light chain genes mapping to chromosome 1 (HP28) and 22 (DNAL4). Eur Hum Genet Conference (Strasbourg France) 2002; P0305 ( Abstract)."},{"key":"10.1097\/GIM.0b013e3181a53562_bb0945","author":"Neesen"},{"key":"10.1097\/GIM.0b013e3181a53562_bb0950","first-page":"A538","article-title":"The human HP28 and HFH4 genes: evaluation as candidate genes for primary ciliary dyskinesia","volume":"163","author":"Pennarun","year":"2001","journal-title":"Am J Respir Crit Care Med"},{"key":"10.1097\/GIM.0b013e3181a53562_bb0955","unstructured":"Blouin JL, Gehrig C, Armengot M, et al. DNAH3: characterization of the sequence and mutation search in patients with primary ciliary dyskinesia. Eur Hum Genet Conference (Strasbourg France) 2002; P0304 ( Abstract)."},{"key":"10.1097\/GIM.0b013e3181a53562_bb0960","author":"Zhang"},{"key":"10.1097\/GIM.0b013e3181a53562_bb0965","author":"Pennarun"}],"container-title":["Genetics in Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1098360021039319?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1098360021039319?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,22]],"date-time":"2025-10-22T01:39:54Z","timestamp":1761097194000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1098360021039319"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2009,7]]},"references-count":192,"journal-issue":{"issue":"7","published-print":{"date-parts":[[2009,7]]}},"alternative-id":["S1098360021039319"],"URL":"https:\/\/doi.org\/10.1097\/gim.0b013e3181a53562","relation":{},"ISSN":["1098-3600"],"issn-type":[{"value":"1098-3600","type":"print"}],"subject":[],"published":{"date-parts":[[2009,7]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Clinical and genetic aspects of primary ciliary dyskinesia\/Kartagener syndrome","name":"articletitle","label":"Article Title"},{"value":"Genetics in Medicine","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1097\/GIM.0b013e3181a53562","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2009, The Author(s), under exclusive licence to the American College of Medical Genetics and Genomics","name":"copyright","label":"Copyright"}]}}