{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,9,27]],"date-time":"2025-09-27T11:40:10Z","timestamp":1758973210706,"version":"3.44.0"},"reference-count":13,"publisher":"Elsevier BV","issue":"12","license":[{"start":{"date-parts":[[2020,12,1]],"date-time":"2020-12-01T00:00:00Z","timestamp":1606780800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2020,12,1]],"date-time":"2020-12-01T00:00:00Z","timestamp":1606780800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2021,12,2]],"date-time":"2021-12-02T00:00:00Z","timestamp":1638403200000},"content-version":"am","delay-in-days":366,"URL":"http:\/\/www.elsevier.com\/open-access\/userlicense\/1.0\/"}],"content-domain":{"domain":["clinicalkey.fr","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Annales de Dermatologie et de V\u00e9n\u00e9r\u00e9ologie"],"published-print":{"date-parts":[[2020,12]]},"DOI":"10.1016\/j.annder.2020.10.016","type":"journal-article","created":{"date-parts":[[2020,11,1]],"date-time":"2020-11-01T08:45:06Z","timestamp":1604220306000},"page":"868-872","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":0,"title":["Syndrome CDAGS (craniost\u00e9nose, surdit\u00e9, anomalie anale et g\u00e9nito-urinaire avec \u00e9ruption cutan\u00e9e)"],"prefix":"10.1016","volume":"147","author":[{"given":"R.","family":"Cohen-Sors","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"B.","family":"Devauchelle","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"P.","family":"Vabres","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.","family":"Jain","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"B.","family":"Demeer","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"E.","family":"Carmi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.annder.2020.10.016_bib0070","doi-asserted-by":"crossref","first-page":"161","DOI":"10.1086\/431654","article-title":"Characterization of a new syndrome that associates craniosynostosis, delayed fontanel 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.annder.2020.10.016_bib0075","doi-asserted-by":"crossref","first-page":"674","DOI":"10.1016\/j.ejmg.2013.09.012","article-title":"Craniosynostosis, anal anomalies, and porokeratosis (CDAGS syndrome): case report and literature review","volume":"56","author":"Chouery","year":"2013","journal-title":"Eur J Med Genet"},{"key":"10.1016\/j.annder.2020.10.016_bib0080","doi-asserted-by":"crossref","first-page":"435","DOI":"10.1111\/ijd.13504","article-title":"Craniosynostosis, delayed closure of the fontanelle, anal, genitourinary, and skin abnormalities (CDAGS syndrome): first report in a Mexican patient and review of the literature","volume":"56","author":"Pastrana-Ayala","year":"2017","journal-title":"Int J Dermatol"},{"key":"10.1016\/j.annder.2020.10.016_bib0085","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.annder.2020.10.016_bib0090","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 Med Genet"},{"key":"10.1016\/j.annder.2020.10.016_bib0095","doi-asserted-by":"crossref","first-page":"382","DOI":"10.1002\/bdrc.21068","article-title":"Genetic and nongenetic etiology of nonsyndromic anorectal malformations: a systematic review","volume":"102","author":"Wijers","year":"2014","journal-title":"Birth Defects Res C Embryo Today"},{"key":"10.1016\/j.annder.2020.10.016_bib0100","doi-asserted-by":"crossref","first-page":"881","DOI":"10.1016\/j.jaad.2011.12.005","article-title":"JAAD Grand Rounds. Annular plaques and craniosynostosis","volume":"68","author":"Taylor","year":"2013","journal-title":"J Am Acad Dermatol"},{"key":"10.1016\/j.annder.2020.10.016_bib0105","doi-asserted-by":"crossref","first-page":"573","DOI":"10.1016\/j.annder.2013.09.477","article-title":"Porok\u00e9ratose, craniost\u00e9nose et anomalie anale\u00a0: deux nouveaux cas dans une m\u00eame famille","volume":"140","author":"Ghanem","year":"2013","journal-title":"Ann Dermatol Venereol"},{"key":"10.1016\/j.annder.2020.10.016_bib0110","doi-asserted-by":"crossref","first-page":"533","DOI":"10.1684\/ejd.2014.2402","article-title":"an update of clinical, aetiopathogenic and therapeutic features","volume":"24","author":"Kanitakis","year":"2014","journal-title":"Eur J Dermatol"},{"key":"10.1016\/j.annder.2020.10.016_bib0115","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.annder.2020.10.016_bib0120","doi-asserted-by":"crossref","first-page":"R68","DOI":"10.1186\/gb-2011-12-7-r68","article-title":"Targeted enrichment beyond the consensus coding DNA sequence exome reveals exons with higher variant densities","volume":"12","author":"Bainbridge","year":"2011","journal-title":"Genome Biol"},{"key":"10.1016\/j.annder.2020.10.016_bib0125","doi-asserted-by":"crossref","first-page":"30","DOI":"10.1186\/1471-2105-15-30","article-title":"Launching genomics into the cloud: deployment of Mercury, a next generation sequence analysis pipeline","volume":"15","author":"Reid","year":"2014","journal-title":"BMC Bioinformatics"},{"key":"10.1016\/j.annder.2020.10.016_bib0065","doi-asserted-by":"crossref","first-page":"422","DOI":"10.1016\/j.ajhg.2019.01.007","article-title":"Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes","volume":"104","author":"Burrage","year":"2019","journal-title":"Am J Hum Genet"}],"container-title":["Annales de Dermatologie et de V\u00e9n\u00e9r\u00e9ologie"],"original-title":[],"language":"fr","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0151963820310449?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0151963820310449?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,9,27]],"date-time":"2025-09-27T11:09:21Z","timestamp":1758971361000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0151963820310449"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,12]]},"references-count":13,"journal-issue":{"issue":"12","published-print":{"date-parts":[[2020,12]]}},"alternative-id":["S0151963820310449"],"URL":"https:\/\/doi.org\/10.1016\/j.annder.2020.10.016","relation":{},"ISSN":["0151-9638"],"issn-type":[{"type":"print","value":"0151-9638"}],"subject":[],"published":{"date-parts":[[2020,12]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Syndrome CDAGS (craniost\u00e9nose, surdit\u00e9, anomalie anale et g\u00e9nito-urinaire avec \u00e9ruption cutan\u00e9e)","name":"articletitle","label":"Article Title"},{"value":"Annales de Dermatologie et de V\u00e9n\u00e9r\u00e9ologie","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.annder.2020.10.016","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"simple-article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2020 Elsevier Masson SAS. All rights reserved.","name":"copyright","label":"Copyright"}]}}