{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,1]],"date-time":"2026-04-01T07:14:08Z","timestamp":1775027648999,"version":"3.50.1"},"reference-count":9,"publisher":"Elsevier BV","issue":"11","license":[{"start":{"date-parts":[[2022,11,1]],"date-time":"2022-11-01T00:00:00Z","timestamp":1667260800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2022,11,1]],"date-time":"2022-11-01T00:00:00Z","timestamp":1667260800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2022,11,1]],"date-time":"2022-11-01T00:00:00Z","timestamp":1667260800000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-017"},{"start":{"date-parts":[[2022,11,1]],"date-time":"2022-11-01T00:00:00Z","timestamp":1667260800000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-037"},{"start":{"date-parts":[[2022,11,1]],"date-time":"2022-11-01T00:00:00Z","timestamp":1667260800000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-012"},{"start":{"date-parts":[[2022,11,1]],"date-time":"2022-11-01T00:00:00Z","timestamp":1667260800000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-029"},{"start":{"date-parts":[[2022,11,1]],"date-time":"2022-11-01T00:00:00Z","timestamp":1667260800000},"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":[[2022,11]]},"DOI":"10.1016\/j.ejmg.2022.104621","type":"journal-article","created":{"date-parts":[[2022,9,20]],"date-time":"2022-09-20T03:35:06Z","timestamp":1663644906000},"page":"104621","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":2,"title":["C20orf24: A potential novel gene responsible for Cerebrofaciothoracic Dysplasia"],"prefix":"10.1016","volume":"65","author":[{"given":"Esra","family":"Isik","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Durdugul Ayyildiz","family":"Emecen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tahir","family":"Atik","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ozgur","family":"Cogulu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ferda","family":"Ozkinay","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"issue":"2","key":"10.1016\/j.ejmg.2022.104621_bib1","doi-asserted-by":"crossref","first-page":"291","DOI":"10.1002\/ajmg.a.36248","article-title":"TMCO1 deficiency causes autosomal recessive cerebrofaciothoracic dysplasia","volume":"164A","author":"Alanay","year":"2014","journal-title":"Am. J. Med. Genet."},{"issue":"3","key":"10.1016\/j.ejmg.2022.104621_bib2","doi-asserted-by":"crossref","first-page":"115","DOI":"10.1097\/MCD.0b013e328360c9ff","article-title":"An additional case of cerebrofaciothoracic dysplasia associated with Chiari type I malformation","volume":"22","author":"Cortesi","year":"2013","journal-title":"Clin. Dysmorphol."},{"issue":"2","key":"10.1016\/j.ejmg.2022.104621_bib3","doi-asserted-by":"crossref","first-page":"107","DOI":"10.1038\/s41580-021-00413-2","article-title":"The mechanisms of integral membrane protein biogenesis","volume":"23","author":"Hegde","year":"2021","journal-title":"Nat. Rev. Mol. Cell Biol."},{"issue":"1","key":"10.1016\/j.ejmg.2022.104621_bib4","doi-asserted-by":"crossref","first-page":"266","DOI":"10.1186\/s12915-021-01171-5","article-title":"A unified evolutionary origin for the ubiquitous protein transporters SecY and YidC","volume":"19","author":"Lewis","year":"2021","journal-title":"BMC Biol."},{"issue":"3","key":"10.1016\/j.ejmg.2022.104621_bib5","doi-asserted-by":"crossref","first-page":"234","DOI":"10.1038\/s41594-021-00567-9","article-title":"Structural and molecular mechanisms for membrane protein biogenesis by the Oxa1 superfamily","volume":"28","author":"McDowell","year":"2021","journal-title":"Nat. Struct. Mol. Biol."},{"issue":"1","key":"10.1016\/j.ejmg.2022.104621_bib6","doi-asserted-by":"crossref","first-page":"43","DOI":"10.1002\/ajmg.a.60678","article-title":"Cerebrofaciothoracic dysplasia: four new patients with a recurrent TMCO1 pathogenic variant","volume":"179","author":"Michael Yates","year":"2019","journal-title":"Am. J. Med. Genet."},{"issue":"3","key":"10.1016\/j.ejmg.2022.104621_bib7","doi-asserted-by":"crossref","first-page":"343","DOI":"10.1111\/j.1469-8749.1975.tb04673.x","article-title":"Cerebro-facio-thoracic dysplasia: report of three cases","volume":"17","author":"Pascual-Castroviejo","year":"1975","journal-title":"Dev. Med. Child Neurol."},{"key":"10.1016\/j.ejmg.2022.104621_bib8","doi-asserted-by":"crossref","first-page":"W214","DOI":"10.1093\/nar\/gkq537","article-title":"The GeneMANIA prediction server: biological network integration for gene prioritization and predicting gene function","volume":"38","author":"Warde-Farley","year":"2010","journal-title":"Nucleic Acids Res."},{"issue":"1","key":"10.1016\/j.ejmg.2022.104621_bib9","doi-asserted-by":"crossref","first-page":"258","DOI":"10.1073\/pnas.0908457107","article-title":"Homozygous frameshift mutation in TMCO1 causes a syndrome with craniofacial dysmorphism, skeletal anomalies, and mental retardation","volume":"107","author":"Xin","year":"2010","journal-title":"Proc. Natl. Acad. Sci. U. S. A."}],"container-title":["European Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1769721222002026?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1769721222002026?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T03:53:55Z","timestamp":1761710035000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1769721222002026"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,11]]},"references-count":9,"journal-issue":{"issue":"11","published-print":{"date-parts":[[2022,11]]}},"alternative-id":["S1769721222002026"],"URL":"https:\/\/doi.org\/10.1016\/j.ejmg.2022.104621","relation":{},"ISSN":["1769-7212"],"issn-type":[{"value":"1769-7212","type":"print"}],"subject":[],"published":{"date-parts":[[2022,11]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"C20orf24: A potential novel gene responsible for Cerebrofaciothoracic Dysplasia","name":"articletitle","label":"Article Title"},{"value":"European Journal of Medical Genetics","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ejmg.2022.104621","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2022 Elsevier Masson SAS. All rights reserved.","name":"copyright","label":"Copyright"}],"article-number":"104621"}}