{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,15]],"date-time":"2026-01-15T14:38:14Z","timestamp":1768487894961,"version":"3.49.0"},"reference-count":7,"publisher":"Elsevier BV","issue":"11-12","license":[{"start":{"date-parts":[[2014,11,1]],"date-time":"2014-11-01T00:00:00Z","timestamp":1414800000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2014,11,1]],"date-time":"2014-11-01T00:00:00Z","timestamp":1414800000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"funder":[{"name":"Fondation du Grand d\u00e9fi Pierre Lavoie"},{"name":"Shriners of North America","award":["85400-CAN"],"award-info":[{"award-number":["85400-CAN"]}]},{"name":"Fonds de recherche Qu\u00e9bec \u2013 Sant\u00e9","award":["24707"],"award-info":[{"award-number":["24707"]}]}],"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":[[2014,11]]},"DOI":"10.1016\/j.ejmg.2014.09.010","type":"journal-article","created":{"date-parts":[[2014,10,13]],"date-time":"2014-10-13T14:48:56Z","timestamp":1413211736000},"page":"617-620","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":8,"title":["Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly in a Finnish woman: First confirmation of a duplication in RUNX2 as pathogenic variant"],"prefix":"10.1016","volume":"57","author":[{"given":"Kristiina","family":"Avela","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Helj\u00e4","family":"Hirvinen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mouna","family":"Ben Amor","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Frank","family":"Rauch","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.ejmg.2014.09.010_bib1","doi-asserted-by":"crossref","first-page":"71","DOI":"10.1002\/ajmg.1320130112","article-title":"Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly","volume":"13","author":"Halal","year":"1982","journal-title":"Am J Med Genet"},{"key":"10.1016\/j.ejmg.2014.09.010_bib2","doi-asserted-by":"crossref","first-page":"254","DOI":"10.1111\/j.1399-0004.2010.01458.x","article-title":"RUNX2 analysis of Danish cleidocranial dysplasia families","volume":"79","author":"Hansen","year":"2011","journal-title":"Clin Genet"},{"key":"10.1016\/j.ejmg.2014.09.010_bib3","doi-asserted-by":"crossref","first-page":"2203","DOI":"10.1002\/ajmg.a.33557","article-title":"Copy number variation analysis in single-suture craniosynostosis: multiple rare variants including RUNX2 duplication in two cousins with metopic craniosynostosis","volume":"152A","author":"Mefford","year":"2010","journal-title":"Am J Med Genet A"},{"key":"10.1016\/j.ejmg.2014.09.010_bib4","doi-asserted-by":"crossref","first-page":"252","DOI":"10.1016\/j.ajhg.2012.12.001","article-title":"Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly is caused by a duplication in RUNX2","volume":"92","author":"Moffatt","year":"2013","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.ejmg.2014.09.010_bib5","doi-asserted-by":"crossref","first-page":"773","DOI":"10.1016\/S0092-8674(00)80260-3","article-title":"Mutations involving the transcription factor CBFA1 cause cleidocranial dysplasia","volume":"89","author":"Mundlos","year":"1997","journal-title":"Cell"},{"key":"10.1016\/j.ejmg.2014.09.010_bib6","doi-asserted-by":"crossref","first-page":"E1587","DOI":"10.1002\/humu.21298","article-title":"Deletions of the RUNX2 gene are present in about 10% of individuals with cleidocranial dysplasia","volume":"31","author":"Ott","year":"2010","journal-title":"Hum Mutat"},{"key":"10.1016\/j.ejmg.2014.09.010_bib7","doi-asserted-by":"crossref","first-page":"724","DOI":"10.1086\/342717","article-title":"Functional analysis of RUNX2 mutations in Japanese patients with cleidocranial dysplasia demonstrates novel genotype-phenotype correlations","volume":"71","author":"Yoshida","year":"2002","journal-title":"Am J Hum Genet"}],"container-title":["European Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S176972121400189X?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S176972121400189X?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T03:41:26Z","timestamp":1761709286000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S176972121400189X"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,11]]},"references-count":7,"journal-issue":{"issue":"11-12","published-print":{"date-parts":[[2014,11]]}},"alternative-id":["S176972121400189X"],"URL":"https:\/\/doi.org\/10.1016\/j.ejmg.2014.09.010","relation":{},"ISSN":["1769-7212"],"issn-type":[{"value":"1769-7212","type":"print"}],"subject":[],"published":{"date-parts":[[2014,11]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly in a Finnish woman: First confirmation of a duplication in RUNX2 as pathogenic variant","name":"articletitle","label":"Article Title"},{"value":"European Journal of Medical Genetics","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ejmg.2014.09.010","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2014 Elsevier Masson SAS. All rights reserved.","name":"copyright","label":"Copyright"}]}}