{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,8,3]],"date-time":"2025-08-03T22:49:00Z","timestamp":1754261340085,"version":"3.37.3"},"reference-count":11,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2017,5,2]],"date-time":"2017-05-02T00:00:00Z","timestamp":1493683200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100001700","name":"Ministry of Education, Culture, Sports, Science and Technology","doi-asserted-by":"publisher","award":["JP16K10805"],"award-info":[{"award-number":["JP16K10805"]}],"id":[{"id":"10.13039\/501100001700","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"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Congenital Anomalies"],"published-print":{"date-parts":[[2018,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Saethre\u2010Chotzen syndrome (SCS) is an autosomal dominant craniosynostotic disorder characterized by coronal synostosis, facial asymmetry, ptosis, and limb abnormalities.<\/jats:p><jats:p>Haploinsufficiency of <jats:italic>TWIST1<\/jats:italic>, a basic helix\u2013loop\u2013helix transcription factor is responsible for SCS. Here, we report a 15\u2010month\u2010old male patient with typical clinical features of SCS in addition to developmental delay, which is a rare complication in SCS. He showed a <jats:italic>de novo<\/jats:italic> 0.9\u2010Mb microdeletion in 7p21, in which <jats:italic>TWIST1<\/jats:italic>, <jats:italic>NPMIP13<\/jats:italic>, <jats:italic>FERD3L<\/jats:italic>, <jats:italic>TWISTNB<\/jats:italic>, and <jats:italic>HDAC9<\/jats:italic> were included. In comparison with previously reported patients, <jats:italic>HDAC9<\/jats:italic> was suggested to contribute to developmental delay in SCS patients with 7p21 mirodeletions.<\/jats:p>","DOI":"10.1111\/cga.12216","type":"journal-article","created":{"date-parts":[[2017,2,21]],"date-time":"2017-02-21T17:10:03Z","timestamp":1487697003000},"page":"33-35","source":"Crossref","is-referenced-by-count":1,"title":["Contiguous gene deletion neighboring <i>TWIST1<\/i> identified in a patient with Saethre\u2010Chotzen syndrome associated with neurodevelopmental delay: Possible contribution of <i>HDAC9<\/i>"],"prefix":"10.1111","volume":"58","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-1677-752X","authenticated-orcid":false,"given":"Hiroko","family":"Shimbo","sequence":"first","affiliation":[{"name":"Clinical Research Institute Kanagawa Children's Medical Center  Yokohama Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tatsuki","family":"Oyoshi","sequence":"additional","affiliation":[{"name":"Department of Neurosurgery, Graduate School of Medical and Dental Sciences Kagoshima University  Kagoshima Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6817-7748","authenticated-orcid":false,"given":"Kenji","family":"Kurosawa","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics Kanagawa Children's Medical Center  Yokohama Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2017,5,2]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2011.02.002"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5201507"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0197-36"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1086\/302122"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1086\/301855"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2014.03.018"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.36027"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1460-9568.2010.07218.x"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2015.07.006"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1006\/dbio.2002.0753"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2009-3491"}],"container-title":["Congenital Anomalies"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fcga.12216","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/api.wiley.com\/onlinelibrary\/chorus\/v1\/articles\/10.1111%2Fcga.12216","content-type":"application\/pdf","content-version":"am","intended-application":"syndication"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cga.12216","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,29]],"date-time":"2023-09-29T11:32:02Z","timestamp":1695987122000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/cga.12216"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,5,2]]},"references-count":11,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2018,1]]}},"alternative-id":["10.1111\/cga.12216"],"URL":"https:\/\/doi.org\/10.1111\/cga.12216","archive":["Portico"],"relation":{},"ISSN":["0914-3505","1741-4520"],"issn-type":[{"type":"print","value":"0914-3505"},{"type":"electronic","value":"1741-4520"}],"subject":[],"published":{"date-parts":[[2017,5,2]]}}}