{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,12]],"date-time":"2026-10-12T18:55:30Z","timestamp":1791831330910,"version":"4.3.4"},"reference-count":9,"publisher":"Elsevier BV","issue":"7","license":[{"start":{"date-parts":[[2023,7,1]],"date-time":"2023-07-01T00:00:00Z","timestamp":1688169600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2023,7,1]],"date-time":"2023-07-01T00:00:00Z","timestamp":1688169600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2023,7,1]],"date-time":"2023-07-01T00:00:00Z","timestamp":1688169600000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-017"},{"start":{"date-parts":[[2023,7,1]],"date-time":"2023-07-01T00:00:00Z","timestamp":1688169600000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-037"},{"start":{"date-parts":[[2023,7,1]],"date-time":"2023-07-01T00:00:00Z","timestamp":1688169600000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-012"},{"start":{"date-parts":[[2023,7,1]],"date-time":"2023-07-01T00:00:00Z","timestamp":1688169600000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-029"},{"start":{"date-parts":[[2023,7,1]],"date-time":"2023-07-01T00:00:00Z","timestamp":1688169600000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-004"}],"funder":[{"DOI":"10.13039\/501100001407","name":"Department of Biotechnology, Ministry of Science and Technology, India","doi-asserted-by":"publisher","award":["BTl\/AAQ\/01\/CDFD-Flagship\/2019"],"award-info":[{"award-number":["BTl\/AAQ\/01\/CDFD-Flagship\/2019"]}],"id":[{"id":"10.13039\/501100001407","id-type":"DOI","asserted-by":"publisher"}]}],"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":[[2023,7]]},"DOI":"10.1016\/j.ejmg.2023.104772","type":"journal-article","created":{"date-parts":[[2023,4,24]],"date-time":"2023-04-24T11:02:02Z","timestamp":1682334122000},"page":"104772","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":2,"title":["Familial monoallelic CYP26B1 truncating variant causes a syndromic craniosynostosis due to haploinsufficiency ?"],"prefix":"10.1016","volume":"66","author":[{"given":"Asodu Sandeep","family":"Sarma","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rohan","family":"Peter Mathew","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5929-745X","authenticated-orcid":false,"given":"Ashwin","family":"Dalal","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Venkatraman","family":"Bhat","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7154-3449","authenticated-orcid":false,"given":"Siddaramappa Jagdish","family":"Patil","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"issue":"1","key":"10.1016\/j.ejmg.2023.104772_bib1","doi-asserted-by":"crossref","first-page":"35","DOI":"10.1038\/s41588-019-0560-2","article-title":"GeVIR is a continuous gene-level metric that uses variant distribution patterns to prioritize disease candidate genes","volume":"52","author":"Abramovs","year":"2020","journal-title":"Nat. Genet."},{"issue":"2","key":"10.1016\/j.ejmg.2023.104772_bib2","doi-asserted-by":"crossref","first-page":"241","DOI":"10.1016\/j.orcp.2016.09.004","article-title":"Whole exome sequencing identifies a homozygous nonsense variation in ALMS1 gene in a patient with syndromic obesity","volume":"11","author":"Das Bhowmik","year":"2017","journal-title":"Obes. Res. Clin. Pract."},{"issue":"9","key":"10.1016\/j.ejmg.2023.104772_bib3","doi-asserted-by":"crossref","first-page":"2766","DOI":"10.1002\/ajmg.a.62387","article-title":"Nonlethal presentations of CYP26B1-related skeletal anomalies and multiple synostoses syndrome","volume":"185","author":"Grand","year":"2021","journal-title":"Am. J. Med. Genet."},{"issue":"8","key":"10.1016\/j.ejmg.2023.104772_bib4","doi-asserted-by":"crossref","first-page":"1012","DOI":"10.1002\/humu.24309","article-title":"Genome aggregation database consortium, rehm HL, MacArthur DG, O'Donnell-luria A. Variant interpretation using population databases: lessons from gnomAD","volume":"43","author":"Gudmundsson","year":"2022","journal-title":"Hum. Mutat."},{"issue":"22","key":"10.1016\/j.ejmg.2023.104772_bib5","doi-asserted-by":"crossref","first-page":"3775","DOI":"10.1242\/dev.021238","article-title":"Restriction of retinoic acid activity by Cyp26b1 is required for proper timing and patterning of osteogenesis during zebrafish development","volume":"135","author":"Laue","year":"2008","journal-title":"Development"},{"issue":"5","key":"10.1016\/j.ejmg.2023.104772_bib6","doi-asserted-by":"crossref","first-page":"595","DOI":"10.1016\/j.ajhg.2011.09.015","article-title":"Craniosynostosis and multiple skeletal anomalies in humans and zebrafish result from a defect in the localized degradation of retinoic acid","volume":"89","author":"Laue","year":"2011","journal-title":"Am. J. Hum. Genet."},{"issue":"9","key":"10.1016\/j.ejmg.2023.104772_bib7","doi-asserted-by":"crossref","first-page":"1297","DOI":"10.1101\/gr.107524.110","article-title":"The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data","volume":"20","author":"McKenna","year":"2010","journal-title":"Genome Res."},{"issue":"10","key":"10.1016\/j.ejmg.2023.104772_bib8","doi-asserted-by":"crossref","first-page":"2706","DOI":"10.1002\/ajmg.a.37804","article-title":"Biallelic mutations in CYP26B1: a differential diagnosis for Pfeiffer and Antley-Bixler syndromes","volume":"170","author":"Morton","year":"2016","journal-title":"Am. J. Med. Genet."},{"issue":"2","key":"10.1016\/j.ejmg.2023.104772_bib9","doi-asserted-by":"crossref","first-page":"348","DOI":"10.1002\/ajmg.a.61427","article-title":"NGS targeted screening of 100 Scandinavian patients with coronal synostosis","volume":"182","author":"Topa","year":"2020","journal-title":"Am. J. Med. Genet."}],"container-title":["European Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1769721223000782?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1769721223000782?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T03:54:47Z","timestamp":1761710087000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1769721223000782"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,7]]},"references-count":9,"journal-issue":{"issue":"7","published-print":{"date-parts":[[2023,7]]}},"alternative-id":["S1769721223000782"],"URL":"https:\/\/doi.org\/10.1016\/j.ejmg.2023.104772","relation":{},"ISSN":["1769-7212"],"issn-type":[{"value":"1769-7212","type":"print"}],"subject":[],"published":{"date-parts":[[2023,7]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Familial monoallelic CYP26B1 truncating variant causes a syndromic craniosynostosis due to haploinsufficiency ?","name":"articletitle","label":"Article Title"},{"value":"European Journal of Medical Genetics","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ejmg.2023.104772","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2023 Elsevier Masson SAS. All rights reserved.","name":"copyright","label":"Copyright"}],"article-number":"104772"}}