{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,27]],"date-time":"2026-09-27T01:52:35Z","timestamp":1790473955886,"version":"4.1.0"},"reference-count":48,"publisher":"Oxford University Press (OUP)","issue":"18","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Human Molecular Genetics"],"published-print":{"date-parts":[[2012,9,15]]},"DOI":"10.1093\/hmg\/dds218","type":"journal-article","created":{"date-parts":[[2012,6,12]],"date-time":"2012-06-12T23:24:52Z","timestamp":1339543492000},"page":"3969-3983","source":"Crossref","is-referenced-by-count":66,"title":["Miller (Genee-Wiedemann) syndrome represents a clinically and biochemically distinct subgroup of postaxial acrofacial dysostosis associated with partial deficiency of DHODH"],"prefix":"10.1093","volume":"21","author":[{"given":"J.","family":"Rainger","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H.","family":"Bengani","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L.","family":"Campbell","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"E.","family":"Anderson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"K.","family":"Sokhi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"W.","family":"Lam","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.","family":"Riess","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Ansari","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.","family":"Smithson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Lees","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C.","family":"Mercer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"K.","family":"McKenzie","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"T.","family":"Lengfeld","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"B.","family":"Gener Querol","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P.","family":"Branney","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.","family":"McKay","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H.","family":"Morrison","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"B.","family":"Medina","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Robertson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.","family":"Kohlhase","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C.","family":"Gordon","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.","family":"Kirk","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D.","family":"Wieczorek","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D. R.","family":"FitzPatrick","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2012,6,12]]},"reference":[{"issue":"1","key":"1_7749995","first-page":"45","volume":"17","author":"Gen\u00a0\u00a0e","year":"1969","journal-title":"Journal de g  n  tique humaine","ISSN":"https:\/\/id.crossref.org\/issn\/0021-7743","issn-type":"print"},{"issue":"6","key":"2_7973715","doi-asserted-by":"publisher","first-page":"970","DOI":"10.1016\/S0022-3476(79)80285-1","volume":"95","author":"Miller","year":"1979","journal-title":"The Journal of pediatrics","ISSN":"https:\/\/id.crossref.org\/issn\/0022-3476","issn-type":"print"},{"issue":"3","key":"4_12545918","first-page":"181","volume":"185","author":"Wiedemann","year":"1973","journal-title":"Klinische P  diatrie","ISSN":"https:\/\/id.crossref.org\/issn\/0300-8630","issn-type":"print"},{"issue":"1","key":"5_36003742","doi-asserted-by":"publisher","first-page":"30","DOI":"10.1038\/ng.499","volume":"42","author":"Ng","year":"2010","journal-title":"Nature genetics","ISSN":"https:\/\/id.crossref.org\/issn\/1061-4036","issn-type":"print"},{"issue":"2","key":"6_39328476","doi-asserted-by":"publisher","first-page":"66","DOI":"10.1097\/MCD.0b013e3283416701","volume":"20","author":"Al Kaissi","year":"2011","journal-title":"Clinical dysmorphology","ISSN":"https:\/\/id.crossref.org\/issn\/0962-8827","issn-type":"print"},{"issue":"27","key":"7_19575262","doi-asserted-by":"publisher","first-page":"25611","DOI":"10.1074\/jbc.M504581200","volume":"280","year":"2005","journal-title":"Journal of Biological Chemistry","ISSN":"https:\/\/id.crossref.org\/issn\/0021-9258","issn-type":"print"},{"issue":"3","key":"8_4864688","doi-asserted-by":"crossref","first-page":"583","DOI":"10.1111\/j.1432-1033.1988.tb13828.x","volume":"171","author":"Carrey","year":"1988","journal-title":"FEBS Journal","ISSN":"https:\/\/id.crossref.org\/issn\/0014-2956","issn-type":"print"},{"issue":"1","key":"9_19538154","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1016\/0022-2836(87)90621-8","volume":"193","author":"Freund","year":"1987","journal-title":"Journal of molecular biology","ISSN":"https:\/\/id.crossref.org\/issn\/0022-2836","issn-type":"print"},{"key":"10_42919788","first-page":"393","volume":"121","year":"1992","ISSN":"https:\/\/id.crossref.org\/issn\/1879-0038","issn-type":"print"},{"issue":"3","key":"11_16697726","first-page":"525","volume":"60","author":"Suchi","year":"1997","journal-title":"American journal of human genetics","ISSN":"https:\/\/id.crossref.org\/issn\/0002-9297","issn-type":"print"},{"issue":"6","key":"12_16033494","doi-asserted-by":"publisher","first-page":"861","DOI":"10.1016\/0006-2952(95)00255-X","volume":"50","author":"Greene","year":"1995","journal-title":"Biochemical pharmacology","ISSN":"https:\/\/id.crossref.org\/issn\/0006-2952","issn-type":"print"},{"issue":"2","key":"13_33856506","doi-asserted-by":"publisher","first-page":"419","DOI":"10.1093\/toxsci\/kfp022","volume":"108","year":"2009","journal-title":"Toxicological Sciences","ISSN":"https:\/\/id.crossref.org\/issn\/1096-6080","issn-type":"print"},{"issue":"3-4","key":"14_29831040","doi-asserted-by":"publisher","first-page":"310","DOI":"10.1016\/j.reprotox.2007.05.006","volume":"24","author":"Fukushima","year":"2007","journal-title":"Reproductive toxicology (Elmsford, N.Y.)","ISSN":"https:\/\/id.crossref.org\/issn\/0890-6238","issn-type":"print"},{"issue":"2","key":"15_35448127","doi-asserted-by":"publisher","first-page":"140","DOI":"10.1002\/gepi.20443","volume":"34","author":"Navarro","year":"2010","journal-title":"Genetic epidemiology","ISSN":"https:\/\/id.crossref.org\/issn\/0741-0395","issn-type":"print"},{"issue":"1","key":"16_16805861","doi-asserted-by":"publisher","first-page":"89","DOI":"10.1006\/prep.1996.0714","volume":"10","author":"Knecht","year":"1997","journal-title":"Protein expression and purification","ISSN":"https:\/\/id.crossref.org\/issn\/1046-5928","issn-type":"print"},{"issue":"19","key":"17_10002954","doi-asserted-by":"publisher","first-page":"8966","DOI":"10.1073\/pnas.89.19.8966","volume":"89","author":"Nagy","year":"1992","journal-title":"PNAS","ISSN":"https:\/\/id.crossref.org\/issn\/0027-8424","issn-type":"print"},{"issue":"15","key":"18_18547504","doi-asserted-by":"publisher","first-page":"1289","DOI":"10.1002\/yea.1181","volume":"21","author":"Matsuyama","year":"2004","journal-title":"Yeast (Chichester, England)","ISSN":"https:\/\/id.crossref.org\/issn\/0749-503X","issn-type":"print"},{"issue":"1","key":"19_8278497","doi-asserted-by":"publisher","first-page":"87","DOI":"10.1016\/S0022-3476(81)80546-X","volume":"98","author":"Fineman","year":"1981","journal-title":"The Journal of pediatrics","ISSN":"https:\/\/id.crossref.org\/issn\/0022-3476","issn-type":"print"},{"issue":"9","key":"20_13075383","first-page":"713","volume":"30","author":"Poissonnier","year":"1983","journal-title":"Annales de p  diatrie","ISSN":"https:\/\/id.crossref.org\/issn\/0066-2097","issn-type":"print"},{"issue":"2","key":"21_13977037","doi-asserted-by":"publisher","first-page":"293","DOI":"10.1002\/ajmg.1320250214","volume":"25","author":"Robinow","year":"1986","journal-title":"American journal of medical genetics","ISSN":"https:\/\/id.crossref.org\/issn\/0148-7299","issn-type":"print"},{"issue":"4","key":"22_14352022","doi-asserted-by":"publisher","first-page":"971","DOI":"10.1002\/ajmg.1320270427","volume":"27","author":"Opitz","year":"1987","journal-title":"American journal of medical genetics","ISSN":"https:\/\/id.crossref.org\/issn\/0148-7299","issn-type":"print"},{"issue":"4","key":"23_14352019","doi-asserted-by":"publisher","first-page":"953","DOI":"10.1002\/ajmg.1320270423","volume":"27","author":"Meinecke","year":"1987","journal-title":"American journal of medical genetics","ISSN":"https:\/\/id.crossref.org\/issn\/0148-7299","issn-type":"print"},{"issue":"7","key":"24_14212045","doi-asserted-by":"publisher","first-page":"422","DOI":"10.1136\/jmg.24.7.422","volume":"24","author":"Donnai","year":"1987","journal-title":"Journal of Medical Genetics","ISSN":"https:\/\/id.crossref.org\/issn\/0022-2593","issn-type":"print"},{"issue":"1","key":"25_4862647","doi-asserted-by":"publisher","first-page":"205","DOI":"10.1002\/ajmg.1320290126","volume":"29","author":"Fryns","year":"1988","journal-title":"American journal of medical genetics","ISSN":"https:\/\/id.crossref.org\/issn\/0148-7299","issn-type":"print"},{"issue":"3","key":"26_5158053","doi-asserted-by":"publisher","first-page":"701","DOI":"10.1002\/ajmg.1320310328","volume":"31","author":"Hauss-Albert","year":"1988","journal-title":"American journal of medical genetics","ISSN":"https:\/\/id.crossref.org\/issn\/0148-7299","issn-type":"print"},{"issue":"4","key":"27_5477930","doi-asserted-by":"publisher","first-page":"450","DOI":"10.1002\/ajmg.1320330406","volume":"33","author":"Richieri-Costa","year":"1989","journal-title":"American journal of medical genetics","ISSN":"https:\/\/id.crossref.org\/issn\/0148-7299","issn-type":"print"},{"issue":"4","key":"28_5477929","doi-asserted-by":"publisher","first-page":"447","DOI":"10.1002\/ajmg.1320330405","volume":"33","author":"Richieri-Costa","year":"1989","journal-title":"American journal of medical genetics","ISSN":"https:\/\/id.crossref.org\/issn\/0148-7299","issn-type":"print"},{"issue":"5","key":"29_5162717","doi-asserted-by":"publisher","first-page":"445","DOI":"10.1007\/BF00595909","volume":"148","author":"Barbuti","year":"1989","journal-title":"European journal of pediatrics","ISSN":"https:\/\/id.crossref.org\/issn\/0340-6199","issn-type":"print"},{"issue":"2","key":"30_5255153","doi-asserted-by":"crossref","first-page":"157","DOI":"10.1111\/j.1399-0004.1989.tb02922.x","volume":"35","author":"Chrzanowska","year":"1989","journal-title":"Clinical genetics","ISSN":"https:\/\/id.crossref.org\/issn\/0009-9163","issn-type":"print"},{"issue":"4","key":"31_5626365","doi-asserted-by":"publisher","first-page":"484","DOI":"10.1002\/ajmg.1320350408","volume":"35","author":"Rodr\u00a0\u00a0guez","year":"1990","journal-title":"American journal of medical genetics","ISSN":"https:\/\/id.crossref.org\/issn\/0148-7299","issn-type":"print"},{"issue":"10","key":"32_9625012","doi-asserted-by":"publisher","first-page":"695","DOI":"10.1136\/jmg.28.10.695","volume":"28","author":"Ogilvy-Stuart","year":"1991","journal-title":"Journal of Medical Genetics","ISSN":"https:\/\/id.crossref.org\/issn\/0022-2593","issn-type":"print"},{"issue":"9","key":"33_9643321","doi-asserted-by":"publisher","first-page":"636","DOI":"10.1136\/jmg.28.9.636","volume":"28","author":"Vigneron","year":"1991","journal-title":"Journal of Medical Genetics","ISSN":"https:\/\/id.crossref.org\/issn\/0022-2593","issn-type":"print"},{"issue":"3","key":"34_9735296","doi-asserted-by":"publisher","first-page":"343","DOI":"10.1002\/ajmg.1320420318","volume":"42","author":"Petit","year":"1992","journal-title":"American journal of medical genetics","ISSN":"https:\/\/id.crossref.org\/issn\/0148-7299","issn-type":"print"},{"issue":"10","key":"35_10033644","doi-asserted-by":"publisher","first-page":"752","DOI":"10.1136\/jmg.29.10.752","volume":"29","author":"Giannotti","year":"1992","journal-title":"Journal of Medical Genetics","ISSN":"https:\/\/id.crossref.org\/issn\/0022-2593","issn-type":"print"},{"issue":"3","key":"36_10116582","doi-asserted-by":"publisher","first-page":"274","DOI":"10.1002\/ajmg.1320440303","volume":"44","author":"Pereira","year":"1992","journal-title":"American journal of medical genetics","ISSN":"https:\/\/id.crossref.org\/issn\/0148-7299","issn-type":"print"},{"issue":"1","key":"37_17299353","doi-asserted-by":"publisher","first-page":"97","DOI":"10.1002\/ajmg.10729","volume":"113","author":"Wessels","year":"2002","journal-title":"American journal of medical genetics","ISSN":"https:\/\/id.crossref.org\/issn\/0148-7299","issn-type":"print"},{"issue":"24","key":"38_30014014","doi-asserted-by":"publisher","first-page":"3286","DOI":"10.1002\/ajmg.a.32021","volume":"143A","author":"Sermer","year":"2007","journal-title":"American journal of medical genetics. Part A","ISSN":"https:\/\/id.crossref.org\/issn\/1552-4825","issn-type":"print"},{"issue":"12","key":"39_32291185","doi-asserted-by":"publisher","first-page":"1385","DOI":"10.1007\/s00431-008-0678-1","volume":"167","author":"Sulko","year":"2008","journal-title":"European journal of pediatrics","ISSN":"https:\/\/id.crossref.org\/issn\/0340-6199","issn-type":"print"},{"issue":"21","key":"40_10040551","doi-asserted-by":"publisher","first-page":"10449","DOI":"10.1073\/pnas.89.21.10449","volume":"89","author":"Horwitz","year":"1992","journal-title":"PNAS","ISSN":"https:\/\/id.crossref.org\/issn\/0027-8424","issn-type":"print"},{"issue":"2","key":"41_5865099","doi-asserted-by":"publisher","first-page":"455","DOI":"10.1006\/dbio.1997.8732","volume":"192","author":"Christen","year":"1997","journal-title":"Developmental biology","ISSN":"https:\/\/id.crossref.org\/issn\/0012-1606","issn-type":"print"},{"issue":"19","key":"42_17772356","doi-asserted-by":"publisher","first-page":"4527","DOI":"10.1242\/dev.00669","volume":"130","author":"Corson","year":"2003","journal-title":"Development","ISSN":"https:\/\/id.crossref.org\/issn\/0950-1991","issn-type":"print"},{"issue":"1","key":"43_10702910","doi-asserted-by":"publisher","first-page":"51","DOI":"10.1057\/palgrave.development.1110011","volume":"126","author":"Tucker","year":"1999","journal-title":"Development","ISSN":"https:\/\/id.crossref.org\/issn\/0950-1991","issn-type":"print"},{"issue":"2","key":"44_16164310","doi-asserted-by":"publisher","first-page":"130","DOI":"10.1038\/ng0296-130","volume":"12","year":"1996","journal-title":"Nature genetics","ISSN":"https:\/\/id.crossref.org\/issn\/1061-4036","issn-type":"print"},{"issue":"16","key":"45_36711661","doi-asserted-by":"publisher","first-page":"3196","DOI":"10.1182\/blood-2009-10-178129","volume":"115","year":"2010","journal-title":"Blood","ISSN":"https:\/\/id.crossref.org\/issn\/0006-4971","issn-type":"print"},{"issue":"1","key":"46_38800568","doi-asserted-by":"publisher","first-page":"20","DOI":"10.1038\/ng.724","volume":"43","author":"Dauwerse","year":"2011","journal-title":"Nature genetics","ISSN":"https:\/\/id.crossref.org\/issn\/1061-4036","issn-type":"print"},{"key":"47_9417712","doi-asserted-by":"crossref","first-page":"795","DOI":"10.1016\/0076-6879(91)94059-L","volume":"194","author":"Moreno","year":"1991","journal-title":"Methods in enzymology","ISSN":"https:\/\/id.crossref.org\/issn\/0076-6879","issn-type":"print"},{"key":"48_42919883","volume":"5","year":"2010","issn-type":"print","ISSN":"https:\/\/id.crossref.org\/issn\/1932-6203"},{"issue":"5567","key":"49_17016891","doi-asserted-by":"publisher","first-page":"541","DOI":"10.1126\/science.1068206","volume":"296","author":"Sharpe","year":"2002","journal-title":"Science","ISSN":"https:\/\/id.crossref.org\/issn\/0036-8075","issn-type":"print"}],"container-title":["Human Molecular Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/academic.oup.com\/hmg\/article-pdf\/21\/18\/3969\/17256095\/dds218.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2017,8,23]],"date-time":"2017-08-23T02:57:51Z","timestamp":1503457071000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/hmg\/article-lookup\/doi\/10.1093\/hmg\/dds218"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012,6,12]]},"references-count":48,"journal-issue":{"issue":"18","published-online":{"date-parts":[[2012,8,27]]},"published-print":{"date-parts":[[2012,9,15]]}},"URL":"https:\/\/doi.org\/10.1093\/hmg\/dds218","relation":{},"ISSN":["0964-6906","1460-2083"],"issn-type":[{"value":"0964-6906","type":"print"},{"value":"1460-2083","type":"electronic"}],"subject":[],"published":{"date-parts":[[2012,6,12]]}}}