{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,16]],"date-time":"2026-10-16T20:44:17Z","timestamp":1792183457197,"version":"4.4.0"},"reference-count":15,"publisher":"Elsevier BV","issue":"6-7","license":[{"start":{"date-parts":[[2012,6,1]],"date-time":"2012-06-01T00:00:00Z","timestamp":1338508800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2012,6,1]],"date-time":"2012-06-01T00:00:00Z","timestamp":1338508800000},"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":[[2012,6]]},"DOI":"10.1016\/j.ejmg.2012.02.012","type":"journal-article","created":{"date-parts":[[2012,3,13]],"date-time":"2012-03-13T20:00:54Z","timestamp":1331668854000},"page":"423-428","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":15,"title":["A further patient with van Maldergem syndrome"],"prefix":"10.1016","volume":"55","author":[{"given":"T.M.","family":"Neuhann","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D.","family":"M\u00fcller","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"K.","family":"Hackmann","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.","family":"Holzinger","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"E.","family":"Schrock","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"N.","family":"Di Donato","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.ejmg.2012.02.012_bib1","doi-asserted-by":"crossref","first-page":"22","DOI":"10.1111\/j.1399-0004.1992.tb03622.x","article-title":"Mental retardation with blepharo-naso-facial abnormalities and hand malformations: a new syndrome?","volume":"41","author":"van Maldergem","year":"1992","journal-title":"Clin. Genet."},{"key":"10.1016\/j.ejmg.2012.02.012_bib2","doi-asserted-by":"crossref","first-page":"140","DOI":"10.1111\/j.1399-0004.1994.tb04011.x","article-title":"Cerebro-facio-articular syndrome of van Maldergem: confirmation of a new MR\/MCA syndrome","volume":"45","author":"Zampino","year":"1994","journal-title":"Clin. Genet."},{"key":"10.1016\/j.ejmg.2012.02.012_bib3","doi-asserted-by":"crossref","first-page":"1329","DOI":"10.1093\/hmg\/ddl053","article-title":"Nell1-deficient mice have reduced expression of extracellular matrix proteins causing cranial and vertebral defects","volume":"15","author":"Desai","year":"2006","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.ejmg.2012.02.012_bib4","doi-asserted-by":"crossref","first-page":"283","DOI":"10.1002\/humu.20883","article-title":"Genomic microarrays in mental retardation: a practical workflow for diagnostic applications","volume":"30","author":"Koolen","year":"2009","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.ejmg.2012.02.012_bib5","doi-asserted-by":"crossref","first-page":"191","DOI":"10.1097\/00019605-200207000-00008","article-title":"A\u00a0second family with blepharo-naso-facial syndrome","volume":"11","author":"Allanson","year":"2002","journal-title":"Clin. Dysmorphol."},{"key":"10.1016\/j.ejmg.2012.02.012_bib6","first-page":"389","article-title":"A\u00a0family with blepharo-naso-facial malformations","volume":"125","author":"Pashayan","year":"1973","journal-title":"Am. J. Dis. Child."},{"key":"10.1016\/j.ejmg.2012.02.012_bib7","doi-asserted-by":"crossref","first-page":"825","DOI":"10.1016\/0002-9394(73)90585-0","article-title":"Eye findings in the blepharo-naso-facial malformation syndrome","volume":"76","author":"Putterman","year":"1973","journal-title":"Am. J. Ophthalmol."},{"key":"10.1016\/j.ejmg.2012.02.012_bib8","doi-asserted-by":"crossref","first-page":"593","DOI":"10.1002\/ajmg.1320340429","article-title":"Autosomal recessive intestinal lymphangiectasia and lymphedema, with facial anomalies and mental retardation","volume":"34","author":"Hennekam","year":"1989","journal-title":"Am. J. Med. Genet."},{"key":"10.1016\/j.ejmg.2012.02.012_bib9","doi-asserted-by":"crossref","first-page":"244","DOI":"10.1002\/ajmg.1320400223","article-title":"Intestinal lymphangiectasia, lymphedema, mental retardation, and typical face: confirmation of the Hennekam syndrome","volume":"40","author":"Gabrielli","year":"1991","journal-title":"Am. J. Med. Genet."},{"key":"10.1016\/j.ejmg.2012.02.012_bib10","doi-asserted-by":"crossref","first-page":"788","DOI":"10.1136\/jmg.26.12.788","article-title":"Unknown syndrome: pachygyria, joint contractures, and facial abnormalities","volume":"26","author":"Winter","year":"1989","journal-title":"J.\u00a0Med. Genet."},{"key":"10.1016\/j.ejmg.2012.02.012_bib11","doi-asserted-by":"crossref","first-page":"532","DOI":"10.1136\/jmg.27.8.532","article-title":"Pachygyria, joint contractures, and facial abnormalities: a new lethal syndrome","volume":"27","author":"Tsukahara","year":"1990","journal-title":"J.\u00a0Med. Genet."},{"key":"10.1016\/j.ejmg.2012.02.012_bib12","doi-asserted-by":"crossref","first-page":"365","DOI":"10.1097\/00019605-199310000-00010","article-title":"An additional case of pachygyria, joint contractures and facial abnormalities","volume":"2","author":"Levin","year":"1993","journal-title":"Clin. Dysmorphol."},{"key":"10.1016\/j.ejmg.2012.02.012_bib13","doi-asserted-by":"crossref","first-page":"424","DOI":"10.1111\/j.1399-0004.1977.tb01339.x","article-title":"Facio-cardio-renal syndrome: a newly delineated recessive disorder","volume":"11","author":"Eastman","year":"1977","journal-title":"Clin. Genet."},{"key":"10.1016\/j.ejmg.2012.02.012_bib14","doi-asserted-by":"crossref","first-page":"31","DOI":"10.1002\/ajmg.1320400106","article-title":"Facio-cardio-renal (Eastman-Bixler) syndrome","volume":"40","author":"Nevin","year":"1991","journal-title":"Am. J. Med. Genet."},{"key":"10.1016\/j.ejmg.2012.02.012_bib15","doi-asserted-by":"crossref","first-page":"769","DOI":"10.1002\/ajmg.a.31150","article-title":"Fetus with two identical reciprocal translocations: description of a rare complication of consanguinity","volume":"140","author":"Martinet","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:S176972121200081X?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S176972121200081X?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T03:39:01Z","timestamp":1761709141000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S176972121200081X"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012,6]]},"references-count":15,"journal-issue":{"issue":"6-7","published-print":{"date-parts":[[2012,6]]}},"alternative-id":["S176972121200081X"],"URL":"https:\/\/doi.org\/10.1016\/j.ejmg.2012.02.012","relation":{},"ISSN":["1769-7212"],"issn-type":[{"value":"1769-7212","type":"print"}],"subject":[],"published":{"date-parts":[[2012,6]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"A further patient with van Maldergem syndrome","name":"articletitle","label":"Article Title"},{"value":"European Journal of Medical Genetics","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ejmg.2012.02.012","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2012 Elsevier Masson SAS. All rights reserved.","name":"copyright","label":"Copyright"}]}}