{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,16]],"date-time":"2026-06-16T12:50:32Z","timestamp":1781614232454,"version":"3.54.5"},"reference-count":20,"publisher":"Elsevier BV","issue":"7","license":[{"start":{"date-parts":[[2021,7,1]],"date-time":"2021-07-01T00:00:00Z","timestamp":1625097600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2021,7,1]],"date-time":"2021-07-01T00:00:00Z","timestamp":1625097600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2021,7,1]],"date-time":"2021-07-01T00:00:00Z","timestamp":1625097600000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-017"},{"start":{"date-parts":[[2021,7,1]],"date-time":"2021-07-01T00:00:00Z","timestamp":1625097600000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-037"},{"start":{"date-parts":[[2021,7,1]],"date-time":"2021-07-01T00:00:00Z","timestamp":1625097600000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-012"},{"start":{"date-parts":[[2021,7,1]],"date-time":"2021-07-01T00:00:00Z","timestamp":1625097600000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-029"},{"start":{"date-parts":[[2021,7,1]],"date-time":"2021-07-01T00:00:00Z","timestamp":1625097600000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-004"}],"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":[[2021,7]]},"DOI":"10.1016\/j.ejmg.2021.104213","type":"journal-article","created":{"date-parts":[[2021,4,27]],"date-time":"2021-04-27T08:18:15Z","timestamp":1619511495000},"page":"104213","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":7,"title":["TBX3 and TBX5 duplication: A family with an atypical overlapping Holt-Oram\/ulnar-mammary syndrome phenotype"],"prefix":"10.1016","volume":"64","author":[{"given":"Camille","family":"Cenni","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stephanie","family":"Andres","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maja","family":"Hempel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tim M.","family":"Strom","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ellen","family":"Thomas","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Angela","family":"Davies","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Norma","family":"Timoney","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alessandra","family":"Frigiola","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Malcolm","family":"Logan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Muriel","family":"Holder-Espinasse","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.ejmg.2021.104213_bib1","doi-asserted-by":"crossref","first-page":"129","DOI":"10.1016\/j.gene.2015.02.017","article-title":"Molecular basis of the clinical features of Holt-Oram syndrome resulting from missense and extended protein mutations of the TBX5 gene as well as TBX5 intragenic duplications","volume":"560","author":"Al-Qattan","year":"2015","journal-title":"Gene"},{"issue":"1","key":"10.1016\/j.ejmg.2021.104213_bib2","doi-asserted-by":"crossref","first-page":"103615","DOI":"10.1016\/j.ejmg.2019.01.005","article-title":"A de novo TBX3 mutation presenting as dorsalization of the little fingers: a forme fruste phenotype of Ulnar-Mammary syndrome","volume":"63","author":"Al-Qattan","year":"2020","journal-title":"Eur. J. Med. Genet."},{"key":"10.1016\/j.ejmg.2021.104213_bib3","doi-asserted-by":"crossref","first-page":"1797","DOI":"10.1002\/ajmg.a.36054","article-title":"Contiguous gene deletion of TBX5 and TBX3 leads to a variable phenotype with combined features of Holt-Oram and Ulnar-Mammary syndromes","volume":"161A","author":"Alby","year":"2013","journal-title":"Am. J. Med. Genet."},{"key":"10.1016\/j.ejmg.2021.104213_bib4","doi-asserted-by":"crossref","first-page":"325","DOI":"10.1002\/(SICI)1096-8628(19961111)65:4<325::AID-AJMG15>3.0.CO;2-W","article-title":"Clinical analysis of a large kindred with the Pallister ulnar-mammary syndrome","volume":"65","author":"Bamshad","year":"1996","journal-title":"Am. J. Med. Genet."},{"key":"10.1016\/j.ejmg.2021.104213_bib5","doi-asserted-by":"crossref","first-page":"311","DOI":"10.1038\/ng0797-311","article-title":"Mutations in human TBX3 alter limb, apocrine and genital development in ulnar-mammary syndrome","volume":"16","author":"Bamshad","year":"1998","journal-title":"Nat. Genet."},{"issue":"1","key":"10.1016\/j.ejmg.2021.104213_bib6","doi-asserted-by":"crossref","first-page":"30","DOI":"10.1038\/ng0197-30","article-title":"Mutations in human TBX5 cause limb and cardiac malformation in Holt-Oram syndrome","volume":"15","author":"Basson","year":"1997","journal-title":"Nat. Genet."},{"key":"10.1016\/j.ejmg.2021.104213_bib7","doi-asserted-by":"crossref","first-page":"2919","DOI":"10.1073\/pnas.96.6.2919","article-title":"Different TBX5 interactions in heart and limb defined by Holt-Oram syndrome mutations","volume":"96","author":"Basson","year":"1999","journal-title":"Proc. Natl. Acad. Sci. Unit. States Am."},{"key":"10.1016\/j.ejmg.2021.104213_bib8","doi-asserted-by":"crossref","first-page":"1304","DOI":"10.1002\/ajmg.a.36447","article-title":"Phenotype of a patient with contiguous deletion of TBX5 and TBX3: expanding the disease spectrum","volume":"164A","author":"Bogarapu","year":"2014","journal-title":"Am. J. Med. Genet."},{"key":"10.1016\/j.ejmg.2021.104213_bib9","doi-asserted-by":"crossref","first-page":"1880","DOI":"10.1002\/ajmg.a.31340","article-title":"Contiguous hemizygous deletion of TBX5, TBX3, and RBM19 resulting in a combined phenotype of Holt-Oram and ulnar-mammary syndromes","volume":"140A","author":"Borozdin","year":"2006","journal-title":"Am. J. Med. Genet."},{"key":"10.1016\/j.ejmg.2021.104213_bib10","doi-asserted-by":"crossref","first-page":"138","DOI":"10.1016\/j.gene.2012.12.051","article-title":"Prenatal diagnosis and molecular cytogenetic characterization of de novo partial trisomy 12q (12q24.21-qter) and partial monosomy 6q (6q27-qter) associated with coarctation of the aorta, ventriculomegay and thickened nuchal fold","volume":"516","author":"Chen","year":"2013","journal-title":"Gene"},{"key":"10.1016\/j.ejmg.2021.104213_bib11","doi-asserted-by":"crossref","first-page":"212","DOI":"10.1002\/ajmg.a.31057","article-title":"Pure direct duplication (12)(q24.1-q24.2) in a child with Marcus Gunn Phenomenon and multiple congenital anomalies","volume":"140A","author":"Doco-Fenzy","year":"2006","journal-title":"Am. J. Med. Genet."},{"key":"10.1016\/j.ejmg.2021.104213_bib12","doi-asserted-by":"crossref","first-page":"8780","DOI":"10.1074\/jbc.M208120200","article-title":"Functional analysis of TBX5 missense mutation associated with Holt-Oram syndrome","volume":"278","author":"Fan","year":"2003","journal-title":"J. Biol. Chem."},{"issue":"1","key":"10.1016\/j.ejmg.2021.104213_bib13","doi-asserted-by":"crossref","first-page":"6","DOI":"10.1097\/MCD.0000000000000199","article-title":"Contiguous gene deletion of TBX5 and TBX3: report of another case","volume":"27","author":"Forzano","year":"2018","journal-title":"Clin. Dysmorphol."},{"issue":"1","key":"10.1016\/j.ejmg.2021.104213_bib14","doi-asserted-by":"crossref","first-page":"1638","DOI":"10.1186\/s40064-016-3275-1","article-title":"Life-threatening cardiac episode in a Polish patient carrying contiguous gene microdeletion of the TBX5 and the TBX3 genes","volume":"5","author":"Iwanicka-Pronicka","year":"2016","journal-title":"SpringerPlus"},{"key":"10.1016\/j.ejmg.2021.104213_bib15","doi-asserted-by":"crossref","first-page":"244","DOI":"10.1007\/s00246-014-1028-x","article-title":"Novel TBX5 duplication in a Japanese family with holt-oram syndrome","volume":"36","author":"Kimura","year":"2015","journal-title":"Pediatr. Cardiol."},{"key":"10.1016\/j.ejmg.2021.104213_bib16","doi-asserted-by":"crossref","first-page":"21","DOI":"10.1038\/ng0197-21","article-title":"Holt-Oram syndrome is caused by mutations in TBX5, a member of the Brachyury (T) gene family","volume":"15","author":"Li","year":"1997","journal-title":"Nat. Genet."},{"key":"10.1016\/j.ejmg.2021.104213_bib17","doi-asserted-by":"crossref","first-page":"863","DOI":"10.1038\/ejhg.2012.16","article-title":"TBX5 intragenic duplication: a family with atypical Holt-Oram syndrome phenotype","volume":"20","author":"Patel","year":"2012","journal-title":"Eur. J. Hum. Genet."},{"issue":"11","key":"10.1016\/j.ejmg.2021.104213_bib18","doi-asserted-by":"crossref","first-page":"1433","DOI":"10.1161\/CIRCRESAHA.107.168294","article-title":"A gain-of-function TBX5 mutation is associated with atypical Holt-Oram syndrome and paroxysmal atrial fibrillation","volume":"102","author":"Postma","year":"2008","journal-title":"Circ. Res."},{"issue":"A","key":"10.1016\/j.ejmg.2021.104213_bib19","doi-asserted-by":"crossref","first-page":"1245","DOI":"10.1002\/ajmg.a.37550","article-title":"Novel copy number variants and major limb reduction malformations: report of three cases","volume":"170","author":"Shamseldin","year":"2016","journal-title":"Am. J. Med. Genet."},{"key":"10.1016\/j.ejmg.2021.104213_bib20","doi-asserted-by":"crossref","first-page":"360","DOI":"10.1038\/s41431-018-0303-3","article-title":"Holt-Oram syndrome: clinical and molecular description of 78 patients with TBX5 variants","volume":"27","author":"Vanlerberghe","year":"2019","journal-title":"Eur. J. Hum. Genet."}],"container-title":["European Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1769721221000793?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1769721221000793?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T03:50:07Z","timestamp":1761709807000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1769721221000793"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,7]]},"references-count":20,"journal-issue":{"issue":"7","published-print":{"date-parts":[[2021,7]]}},"alternative-id":["S1769721221000793"],"URL":"https:\/\/doi.org\/10.1016\/j.ejmg.2021.104213","relation":{},"ISSN":["1769-7212"],"issn-type":[{"value":"1769-7212","type":"print"}],"subject":[],"published":{"date-parts":[[2021,7]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"TBX3 and TBX5 duplication: A family with an atypical overlapping Holt-Oram\/ulnar-mammary syndrome phenotype","name":"articletitle","label":"Article Title"},{"value":"European Journal of Medical Genetics","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ejmg.2021.104213","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2021 Elsevier Masson SAS. All rights reserved.","name":"copyright","label":"Copyright"}],"article-number":"104213"}}