{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,25]],"date-time":"2026-10-25T00:52:32Z","timestamp":1792889552741,"version":"4.5.0"},"reference-count":13,"publisher":"SAGE Publications","issue":"3","license":[{"start":{"date-parts":[[2017,12,14]],"date-time":"2017-12-14T00:00:00Z","timestamp":1513209600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["The Cleft Palate Craniofacial Journal"],"published-print":{"date-parts":[[2018,3]]},"abstract":"\n Objective:<\/jats:title>\n Point mutations and deletions within the SOX11 gene have recently been described in individuals with a rare variant of Coffin-Siris syndrome, OMIM 615866, an intellectual disability syndrome with associated features of nail hypoplasia, microcephaly, and characteristic facial features including a wide mouth and prominent lips.<\/jats:p>\n <\/jats:sec>\n \n Participant:<\/jats:title>\n We describe a further patient with a mutation in SOX11 and phenotype resembling mild Coffin-Siris syndrome.<\/jats:p>\n <\/jats:sec>\n \n Results:<\/jats:title>\n This boy had a cleft palate, a feature not previously seen in other patients with SOX11 mutations.<\/jats:p>\n <\/jats:sec>\n \n Conclusion:<\/jats:title>\n We discuss This adds to the current evidence that SOX11 is a gene involved in palatogenesis.<\/jats:p>\n <\/jats:sec>","DOI":"10.1177\/1055665617739312","type":"journal-article","created":{"date-parts":[[2018,2,13]],"date-time":"2018-02-13T13:03:16Z","timestamp":1518526996000},"page":"456-461","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":20,"title":["Observation of Cleft Palate in an Individual with\n SOX11<\/i>\n Mutation"],"prefix":"10.1177","volume":"55","author":[{"given":"Umair","family":"Khan","sequence":"first","affiliation":[{"name":"University of Manchester, Faculty of Biology, Medicine and Health, Manchester, United Kingdom"},{"name":"Division of Evolution and Genomic Sciences, School of Biological Sciences, University of Manchester, Manchester, United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"DDD","family":"Study","sequence":"additional","affiliation":[{"name":"Wellcome Trust Sanger Centre, Hinxton, Cambridge, United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eleanor","family":"Baker","sequence":"additional","affiliation":[{"name":"Manchester Centre For Genomic Medicine, St Mary\u2019s Hospital, Central Manchester NHS Foundation Trust, Manchester Academic Health Sciences Centre, Manchester, United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jill","family":"Clayton-Smith","sequence":"additional","affiliation":[{"name":"University of Manchester, Faculty of Biology, Medicine and Health, Manchester, United Kingdom"},{"name":"Division of Evolution and Genomic Sciences, School of Biological Sciences, University of Manchester, Manchester, United Kingdom"},{"name":"Manchester Centre For Genomic Medicine, St Mary\u2019s Hospital, Central Manchester NHS Foundation Trust, Manchester Academic Health Sciences Centre, Manchester, United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"179","published-online":{"date-parts":[[2017,12,14]]},"reference":[{"key":"bibr1-1055665617739312","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30249"},{"key":"bibr2-1055665617739312","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2015-103393"},{"key":"bibr3-1055665617739312","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M115.690875"},{"key":"bibr4-1055665617739312","doi-asserted-by":"publisher","DOI":"10.1002\/bdra.20430"},{"key":"bibr5-1055665617739312","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2217"},{"key":"bibr6-1055665617739312","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22394"},{"key":"bibr7-1055665617739312","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.31414"},{"key":"bibr8-1055665617739312","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.37592"},{"key":"bibr9-1055665617739312","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2219"},{"key":"bibr10-1055665617739312","doi-asserted-by":"publisher","DOI":"10.1038\/ncomms5011"},{"key":"bibr11-1055665617739312","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12225"},{"key":"bibr12-1055665617739312","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddt366"},{"key":"bibr13-1055665617739312","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(14)61705-0"}],"container-title":["The Cleft Palate Craniofacial Journal"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/1055665617739312","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/full-xml\/10.1177\/1055665617739312","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/1055665617739312","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,28]],"date-time":"2026-04-28T16:22:56Z","timestamp":1777393376000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1177\/1055665617739312"}},"subtitle":["Indication of a Role for\n SOX11<\/i>\n in Human Palatogenesis"],"short-title":[],"issued":{"date-parts":[[2017,12,14]]},"references-count":13,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2018,3]]}},"alternative-id":["10.1177\/1055665617739312"],"URL":"https:\/\/doi.org\/10.1177\/1055665617739312","relation":{},"ISSN":["1055-6656","1545-1569"],"issn-type":[{"value":"1055-6656","type":"print"},{"value":"1545-1569","type":"electronic"}],"subject":[],"published":{"date-parts":[[2017,12,14]]}}}