{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,1]],"date-time":"2026-04-01T20:22:17Z","timestamp":1775074937247,"version":"3.50.1"},"reference-count":9,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2015,4,13]],"date-time":"2015-04-13T00:00:00Z","timestamp":1428883200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100004440","name":"Wellcome Trust","doi-asserted-by":"publisher","award":["093329"],"award-info":[{"award-number":["093329"]}],"id":[{"id":"10.13039\/100004440","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100004440","name":"Wellcome Trust","doi-asserted-by":"publisher","award":["102731"],"award-info":[{"award-number":["102731"]}],"id":[{"id":"10.13039\/100004440","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2015,8]]},"abstract":"<jats:sec><jats:label\/><jats:p>Heterozygous mutations in <jats:italic>TCF12<\/jats:italic> were recently identified as an important cause of craniosynostosis. In the original series, 14% of patients with a mutation in <jats:italic>TCF12<\/jats:italic> had significant developmental delay or learning disability. We report on the first case of <jats:italic>TCF12<\/jats:italic> microdeletion, detected by array\u2010comparative genomic hybridization, in a 72\u2010year\u2010old patient presenting with intellectual deficiency and dysmorphism. Multiplex ligation\u2010dependent probe amplification analysis indicated that exon 19, encoding the functionally important basic helix\u2010loop\u2010helix domain, was included in the deleted segment in addition to exon 20. We postulate that the <jats:italic>TCF12<\/jats:italic> microdeletion is responsible for this patient's intellectual deficiency and facial phenotype. \u00a9 2015 The Authors. <jats:italic>American Journal of Medical Genetics Part A<\/jats:italic> Published by Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.37083","type":"journal-article","created":{"date-parts":[[2015,4,13]],"date-time":"2015-04-13T15:16:49Z","timestamp":1428938209000},"page":"1897-1901","source":"Crossref","is-referenced-by-count":15,"title":["<i>TCF12<\/i> microdeletion in a 72\u2010year\u2010old woman with intellectual disability"],"prefix":"10.1002","volume":"167","author":[{"given":"Juliette","family":"Piard","sequence":"first","affiliation":[{"name":"Centre de g\u00e9n\u00e9tique humaine Universit\u00e9 de Franche\u2010Comt\u00e9 Besan\u00e7on France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Virginie","family":"Roz\u00e9","sequence":"additional","affiliation":[{"name":"Laboratoire de g\u00e9n\u00e9tique histologie et biologie de la reproduction Universit\u00e9 de Franche\u2010Comt\u00e9 Besan\u00e7on France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alain","family":"Czorny","sequence":"additional","affiliation":[{"name":"Service de neurochirurgie Universit\u00e9 de Franche\u2010Comt\u00e9 Besan\u00e7on France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marion","family":"Lenoir","sequence":"additional","affiliation":[{"name":"Service de radiologie p\u00e9diatrique Universit\u00e9 de Franche\u2010Comt\u00e9 Besan\u00e7on France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Myl\u00e8ne","family":"Valduga","sequence":"additional","affiliation":[{"name":"Laboratoire de g\u00e9n\u00e9tique Universit\u00e9 de Nancy Nancy France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Aim\u00e9e L.","family":"Fenwick","sequence":"additional","affiliation":[{"name":"Weatherall Institute of Molecular Medicine University of Oxford John Radcliffe Hospital Headington Oxford UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andrew O. M.","family":"Wilkie","sequence":"additional","affiliation":[{"name":"Weatherall Institute of Molecular Medicine University of Oxford John Radcliffe Hospital Headington Oxford UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lionel Van","family":"Maldergem","sequence":"additional","affiliation":[{"name":"Centre de g\u00e9n\u00e9tique humaine Universit\u00e9 de Franche\u2010Comt\u00e9 Besan\u00e7on France"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2015,4,13]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2014.57"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320360214"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32339"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.36467"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2014.205"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2531"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.20093"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2008.07.010"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2014.02.001"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.37083","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.37083","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/ajmg.a.37083","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.37083","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,6]],"date-time":"2023-10-06T11:01:26Z","timestamp":1696590086000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.37083"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,4,13]]},"references-count":9,"journal-issue":{"issue":"8","published-print":{"date-parts":[[2015,8]]}},"alternative-id":["10.1002\/ajmg.a.37083"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.37083","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2015,4,13]]}}}