{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,7]],"date-time":"2026-10-07T04:41:55Z","timestamp":1791348115863,"version":"4.3.1"},"reference-count":13,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2017,3,29]],"date-time":"2017-03-29T00:00:00Z","timestamp":1490745600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100009619","name":"Japan Agency for Medical Research and Development","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100009619","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003478","name":"Ministry of Health, Labour and Welfare","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100003478","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001691","name":"Japan Society for the Promotion of Science","doi-asserted-by":"publisher","award":["15K09631"],"award-info":[{"award-number":["15K09631"]}],"id":[{"id":"10.13039\/501100001691","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":[[2017,5]]},"abstract":"<jats:sec>\n                    <jats:label\/>\n                    <jats:p>\n                      <jats:italic>MED13L<\/jats:italic>\n                      haploinsufficiency syndrome is a clinical condition manifesting intellectual disability and developmental delay in association with various complications including congenital heart defects and dysmorphic features. Most of the previously reported patients showed de novo loss\u2010of\u2010function mutations in\n                      <jats:italic>MED13L<\/jats:italic>\n                      . Additional three patients with\n                      <jats:italic>MED13L<\/jats:italic>\n                      haploinsufficiency syndrome were identified here in association with rare complications. One patient had a de novo deletion (c.257delT) and T2\u2010weighted high intensity in the occipital white matter on magnetic resonance imaging. Two siblings exhibited an intragenic deletion involving exons 3\u201314, which led to an in\u2010frame deletion in\n                      <jats:italic>MED13L<\/jats:italic>\n                      . The deletion was inherited from their carrier mother who possessed low frequency mosaicism. The older sister of the siblings showed craniosynostosis; this condition has never been reported in patients with\n                      <jats:italic>MED13L<\/jats:italic>\n                      haploinsufficiency syndrome. Dysmorphic features were observed in these patients; however, most of the findings were nonspecific. Further information would be necessary to understand this clinical condition better.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/ajmg.a.38168","type":"journal-article","created":{"date-parts":[[2017,3,29]],"date-time":"2017-03-29T09:49:44Z","timestamp":1490780984000},"page":"1264-1269","source":"Crossref","is-referenced-by-count":33,"title":["<i>MED13L<\/i>\n                    haploinsufficiency syndrome: A de novo frameshift and recurrent intragenic deletions due to parental mosaicism"],"prefix":"10.1002","volume":"173","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-9484-3505","authenticated-orcid":false,"given":"Toshiyuki","family":"Yamamoto","sequence":"first","affiliation":[{"name":"Institute of Medical Genetics Tokyo Women's Medical University Tokyo Japan"},{"name":"Tokyo Women's Medical University Institute for Integrated Medical Sciences Tokyo Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Keiko","family":"Shimojima","sequence":"additional","affiliation":[{"name":"Institute of Medical Genetics Tokyo Women's Medical University Tokyo Japan"},{"name":"Tokyo Women's Medical University Institute for Integrated Medical Sciences Tokyo Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yumiko","family":"Ondo","sequence":"additional","affiliation":[{"name":"Tokyo Women's Medical University Institute for Integrated Medical Sciences Tokyo Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shuichi","family":"Shimakawa","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Osaka Medical College Osaka Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5415-656X","authenticated-orcid":false,"given":"Nobuhiko","family":"Okamoto","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Osaka Medical Center and Research Institute for Maternal and Child Health Osaka Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2017,3,29]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2013.17"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2015.19"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1004772"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.neuron.2012.04.009"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1161\/01.CIR.0000103684.77636.CD"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature10423"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2014-102554"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.37545"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22636"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2014.69"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1038\/hgv.2016.25"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1038\/hgv.2015.48"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1038\/jhg.2014.21"}],"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.38168","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.38168","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/ajmg.a.38168","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.38168","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,28]],"date-time":"2023-08-28T04:47:19Z","timestamp":1693198039000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.38168"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,3,29]]},"references-count":13,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2017,5]]}},"alternative-id":["10.1002\/ajmg.a.38168"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.38168","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2017,3,29]]}}}