{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,8,22]],"date-time":"2025-08-22T04:57:07Z","timestamp":1755838627530},"reference-count":12,"publisher":"Elsevier BV","issue":"10","license":[{"start":{"date-parts":[[2017,10,1]],"date-time":"2017-10-01T00:00:00Z","timestamp":1506816000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"content-domain":{"domain":["clinicalkey.fr","em-consulte.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Archives de P\u00e9diatrie"],"published-print":{"date-parts":[[2017,10]]},"DOI":"10.1016\/j.arcped.2017.07.004","type":"journal-article","created":{"date-parts":[[2017,9,16]],"date-time":"2017-09-16T02:16:29Z","timestamp":1505528189000},"page":"1000-1004","update-policy":"http:\/\/dx.doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":6,"title":["Chronic intestinal pseudo-obstruction in a child with Treacher Collins syndrome"],"prefix":"10.1016","volume":"24","author":[{"given":"E.","family":"Giabicani","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J.","family":"Lemale","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"L.","family":"Dainese","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S.","family":"Boudjemaa","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A.","family":"Coulomb","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"P.","family":"Tounian","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"B.","family":"Dubern","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.arcped.2017.07.004_bib0065","doi-asserted-by":"crossref","first-page":"20","DOI":"10.1038\/ng.724","article-title":"Mutations in gene encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome","volume":"43","author":"Dauwerse","year":"2011","journal-title":"Nature Genet"},{"key":"10.1016\/j.arcped.2017.07.004_bib0070","doi-asserted-by":"crossref","first-page":"49","DOI":"10.1038\/gim.2015.29","article-title":"Treacher Collins syndrome: a clinical and molecular study based on a large series of patients","volume":"18","author":"Vincent","year":"2016","journal-title":"Genet Med"},{"key":"10.1016\/j.arcped.2017.07.004_bib0075","doi-asserted-by":"crossref","first-page":"283","DOI":"10.1002\/ajmg.c.31375","article-title":"Facial dysostoses: etiology, pathogenesis and management","volume":"163C","author":"Trainor","year":"2013","journal-title":"Am J Med Genet C Semin Med Genet"},{"key":"10.1016\/j.arcped.2017.07.004_bib0080","doi-asserted-by":"crossref","first-page":"374e","DOI":"10.1097\/PRS.0000000000002381","article-title":"Treacher Collins syndrome: a systematic review of evidence-based treatment and recommendations","volume":"138","author":"Herlin","year":"2016","journal-title":"Plast Reconstr Surg"},{"key":"10.1016\/j.arcped.2017.07.004_bib0085","doi-asserted-by":"crossref","first-page":"173","DOI":"10.1002\/ajmg.a.30038","article-title":"Treacher Collins syndrome with craniosynostosis, choanal atresia, and esophageal regurgitation caused by a novel nonsense mutation in TCOF1","volume":"128A","author":"Horiuchi","year":"2004","journal-title":"Am J Med Genet A"},{"key":"10.1016\/j.arcped.2017.07.004_bib0090","doi-asserted-by":"crossref","first-page":"119","DOI":"10.1002\/ajmg.1320390126","article-title":"Treacher Collins-Franceschetti syndrome with tracheoesophageal fistula, rectovaginal fistula, and anal atresia: variant, or new syndrome?","volume":"39","author":"Robb","year":"1991","journal-title":"Am J Med Genet"},{"key":"10.1016\/j.arcped.2017.07.004_bib0095","doi-asserted-by":"crossref","first-page":"693","DOI":"10.1097\/00004836-198712000-00015","article-title":"Treacher Collins syndrome achalasia","volume":"9","author":"Schneider","year":"1987","journal-title":"J Clin Gastroenterol"},{"key":"10.1016\/j.arcped.2017.07.004_bib0100","doi-asserted-by":"crossref","first-page":"425","DOI":"10.1007\/s00520-011-1305-7","article-title":"A novel approach to paraneoplastic intestinal pseudo-obstruction","volume":"20","author":"Badari","year":"2012","journal-title":"Support Care Cancer"},{"key":"10.1016\/j.arcped.2017.07.004_bib0105","doi-asserted-by":"crossref","first-page":"24","DOI":"10.1111\/j.1365-2982.2010.01595.x","article-title":"Normal oxidative phosphorylation in intestinal smooth muscle of childhood chronic intestinal pseudo-obstruction","volume":"23","author":"Galmiche","year":"2011","journal-title":"Neurogastroenterol Motil"},{"key":"10.1016\/j.arcped.2017.07.004_bib0110","doi-asserted-by":"crossref","first-page":"1782","DOI":"10.1093\/hmg\/ddr611","article-title":"Balancing neural crest cell intrinsic processes with those of the microenvironment in Tcof1 haploinsufficient mice enables complete enteric nervous system formation","volume":"21","author":"Barlow","year":"2012","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.arcped.2017.07.004_bib0115","doi-asserted-by":"crossref","first-page":"1206","DOI":"10.1093\/hmg\/dds528","article-title":"Tcof1 acts as a modifier of Pax3 during enteric nervous system development and in the pathogenesis of colonic aganglionosis","volume":"22","author":"Barlow","year":"2013","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.arcped.2017.07.004_bib0120","doi-asserted-by":"crossref","first-page":"1420","DOI":"10.1097\/SCS.0000000000002719","article-title":"Tcof1-related molecular networks in Treacher Collins syndrome","volume":"27","author":"Dai J1","year":"2016","journal-title":"J Craniofac Surg"}],"container-title":["Archives de P\u00e9diatrie"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0929693X17302981?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0929693X17302981?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2018,8,27]],"date-time":"2018-08-27T13:00:40Z","timestamp":1535374840000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0929693X17302981"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,10]]},"references-count":12,"journal-issue":{"issue":"10","published-print":{"date-parts":[[2017,10]]}},"alternative-id":["S0929693X17302981"],"URL":"https:\/\/doi.org\/10.1016\/j.arcped.2017.07.004","relation":{},"ISSN":["0929-693X"],"issn-type":[{"value":"0929-693X","type":"print"}],"subject":[],"published":{"date-parts":[[2017,10]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Chronic intestinal pseudo-obstruction in a child with Treacher Collins syndrome","name":"articletitle","label":"Article Title"},{"value":"Archives de P\u00e9diatrie","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.arcped.2017.07.004","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2017 Published by Elsevier Masson SAS.","name":"copyright","label":"Copyright"}]}}