{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T10:25:21Z","timestamp":1761733521808,"version":"build-2065373602"},"reference-count":8,"publisher":"Elsevier BV","issue":"12","license":[{"start":{"date-parts":[[2013,12,1]],"date-time":"2013-12-01T00:00:00Z","timestamp":1385856000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2013,12,1]],"date-time":"2013-12-01T00:00:00Z","timestamp":1385856000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"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":[[2013,12]]},"DOI":"10.1016\/j.ejmg.2013.09.012","type":"journal-article","created":{"date-parts":[[2013,10,3]],"date-time":"2013-10-03T21:17:18Z","timestamp":1380835038000},"page":"674-677","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":8,"title":["Craniosynostosis, anal anomalies, and porokeratosis (CDAGS syndrome): Case report and literature review"],"prefix":"10.1016","volume":"56","author":[{"given":"Eliane","family":"Chouery","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Claire","family":"Guissart","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hala","family":"M\u00e9garban\u00e9","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bernard","family":"Aral","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Charbel","family":"Nassif","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Christel","family":"Thauvin-Robinet","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Laurence","family":"Faivre","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andr\u00e9","family":"M\u00e9garban\u00e9","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.ejmg.2013.09.012_bib1","doi-asserted-by":"crossref","first-page":"249","DOI":"10.1111\/j.1365-2133.1990.tb01855.x","article-title":"Disseminated porokeratosis in an infant with craniosynostosis","volume":"123","author":"Judge","year":"1990","journal-title":"Br. J. Dermatol."},{"key":"10.1016\/j.ejmg.2013.09.012_bib2","doi-asserted-by":"crossref","first-page":"109","DOI":"10.1007\/BF00441723","article-title":"Two siblings with cleidocranial dysplasia associated with atresia ani and psoriasis-like lesions: a new syndrome?","volume":"136","author":"Fukuda","year":"1981","journal-title":"Eur. J. Pediatr."},{"key":"10.1016\/j.ejmg.2013.09.012_bib3","doi-asserted-by":"crossref","first-page":"161","DOI":"10.1086\/431654","article-title":"Characterization of a new syndrome that associates craniosynostosis, delayed fontanelle closure, parietal foramina, imperforate anus and skin eruption: CDAGS","volume":"77","author":"Mendoza-Londono","year":"2005","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ejmg.2013.09.012_bib4","doi-asserted-by":"crossref","first-page":"763","DOI":"10.1136\/jmg.35.9.763","article-title":"Familial craniosynostosis, anal anomalies and porokeratosis: CAP syndrome","volume":"35","author":"Flanagan","year":"1998","journal-title":"J.\u00a0Med. Genet."},{"key":"10.1016\/j.ejmg.2013.09.012_bib5","doi-asserted-by":"crossref","first-page":"145","DOI":"10.1111\/j.1399-0004.2012.01860.x","article-title":"Clinical application of 2.7M cytogenetics array for CNV detection in subjects with idiopathic autism and\/or intellectual disability","volume":"83","author":"Qiao","year":"2013","journal-title":"Clin. Genet."},{"key":"10.1016\/j.ejmg.2013.09.012_bib6","doi-asserted-by":"crossref","first-page":"148","DOI":"10.1136\/jmg.2005.031781","article-title":"Revisiting the craniosynostosis-radial ray hypoplasia association: Baller\u2013Gerold syndrome caused by mutations in the RECQL4 gene","volume":"43","author":"Van Maldergem","year":"2006","journal-title":"J.\u00a0Med. Genet."},{"key":"10.1016\/j.ejmg.2013.09.012_bib7","doi-asserted-by":"crossref","first-page":"72","DOI":"10.1016\/j.ajhg.2009.11.014","article-title":"Targeted next-generation sequencing appoints C16orf57 as Clericuzio-type poikiloderma with neutropenia gene","volume":"86","author":"Volpi","year":"2010","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ejmg.2013.09.012_bib8","doi-asserted-by":"crossref","first-page":"15628","DOI":"10.1073\/pnas.0908039106","article-title":"Assembly of the Cdc45-Mcm2\u20137-GINS complex in human cells requires the Ctf4\/And-1, RecQL4, and Mcm10 proteins","volume":"106","author":"Im","year":"2009","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:S1769721213002115?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1769721213002115?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T03:40:39Z","timestamp":1761709239000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1769721213002115"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,12]]},"references-count":8,"journal-issue":{"issue":"12","published-print":{"date-parts":[[2013,12]]}},"alternative-id":["S1769721213002115"],"URL":"https:\/\/doi.org\/10.1016\/j.ejmg.2013.09.012","relation":{},"ISSN":["1769-7212"],"issn-type":[{"type":"print","value":"1769-7212"}],"subject":[],"published":{"date-parts":[[2013,12]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Craniosynostosis, anal anomalies, and porokeratosis (CDAGS syndrome): Case report and literature review","name":"articletitle","label":"Article Title"},{"value":"European Journal of Medical Genetics","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ejmg.2013.09.012","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2013 Elsevier Masson SAS. All rights reserved.","name":"copyright","label":"Copyright"}]}}