{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,7]],"date-time":"2026-10-07T12:45:35Z","timestamp":1791377135795,"version":"4.3.2"},"reference-count":11,"publisher":"Elsevier BV","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":[[2022,8,29]],"date-time":"2022-08-29T00:00:00Z","timestamp":1661731200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100010381","name":"European Society for Paediatric Endocrinology","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100010381","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Gene"],"published-print":{"date-parts":[[2022,11]]},"DOI":"10.1016\/j.gene.2022.146809","type":"journal-article","created":{"date-parts":[[2022,8,13]],"date-time":"2022-08-13T01:44:34Z","timestamp":1660355074000},"page":"146809","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":2,"special_numbering":"C","title":["Clinical presentation and molecular genetic analysis of a Sudanese family with a novel mutation in the CYP2R1 gene"],"prefix":"10.1016","volume":"844","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-5770-1340","authenticated-orcid":false,"given":"Asmahan T.","family":"Abdalla","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marijke","family":"Koedam","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sten L.S.","family":"Drop","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2426-3222","authenticated-orcid":false,"given":"Annemieke M.","family":"Boot","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mohamed A.","family":"Abdullah","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bram C.J.","family":"van der Eerden","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"issue":"20","key":"10.1016\/j.gene.2022.146809_b0005","doi-asserted-by":"crossref","first-page":"7711","DOI":"10.1073\/pnas.0402490101","article-title":"Genetic evidence that the human CYP2R1 enzyme is a key vitamin D 25-hydroxylase","volume":"101","author":"Cheng","year":"2004","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"10.1016\/j.gene.2022.146809_b0010","doi-asserted-by":"crossref","first-page":"333","DOI":"10.1016\/j.jsbmb.2016.07.014","article-title":"CYP2R1 mutations causing vitamin D-deficiency rickets","volume":"173","author":"Thacher","year":"2017","journal-title":"J. Steroid Biochem. Mol. Biol."},{"issue":"7","key":"10.1016\/j.gene.2022.146809_b0015","doi-asserted-by":"crossref","first-page":"1017","DOI":"10.1515\/JPEM.2002.15.7.1017","article-title":"Adolescent rickets in Saudi Arabia: a rich and sunny country","volume":"15","author":"Abdullah","year":"2002","journal-title":"J. Pediatr. Endocrinol. Metab."},{"issue":"3","key":"10.1016\/j.gene.2022.146809_b0020","doi-asserted-by":"crossref","first-page":"310","DOI":"10.1038\/ng.2892","article-title":"A general framework for estimating the relative pathogenicity of human genetic variants","volume":"46","author":"Kircher","year":"2014","journal-title":"Nat. Genet."},{"issue":"8","key":"10.1016\/j.gene.2022.146809_b0025","doi-asserted-by":"crossref","first-page":"575","DOI":"10.1038\/nmeth0810-575","article-title":"MutationTaster evaluates disease-causing potential of sequence alterations","volume":"7","author":"Schwarz","year":"2010","journal-title":"Nat. Methods"},{"issue":"2","key":"10.1016\/j.gene.2022.146809_b0030","doi-asserted-by":"crossref","first-page":"e59","DOI":"10.1542\/neo.9-2-e59","article-title":"Consanguinity: Perinatal Outcomes and Prevention - A view from the Middle East","volume":"9","author":"Yunis","year":"2008","journal-title":"Neoreviews."},{"issue":"6","key":"10.1016\/j.gene.2022.146809_b0035","doi-asserted-by":"crossref","first-page":"929","DOI":"10.1016\/S0022-3476(05)83184-1","article-title":"A possible genetic defect in 25-hydroxylation as a cause of rickets","volume":"124","author":"Casella","year":"1994","journal-title":"J. Pediatr."},{"issue":"7","key":"10.1016\/j.gene.2022.146809_b0040","doi-asserted-by":"crossref","first-page":"E1005","DOI":"10.1210\/jc.2015-1746","article-title":"CYP2R1 Mutations Impair Generation of 25-hydroxyvitamin D and Cause an Atypical Form of Vitamin D Deficiency","volume":"100","author":"Thacher","year":"2015","journal-title":"J. Clin. Endocrinol. Metab."},{"issue":"2","key":"10.1016\/j.gene.2022.146809_b0045","doi-asserted-by":"crossref","first-page":"191","DOI":"10.1007\/s00223-020-00704-4","article-title":"Prolonged 25-OH Vitamin D Deficiency Does Not Impair Bone Mineral Density in Adult Patients With Vitamin D 25-Hydroxylase Deficiency (CYP2R1)","volume":"107","author":"Wiedemann","year":"2020","journal-title":"Calcif. Tissue Int."},{"issue":"10","key":"10.1016\/j.gene.2022.146809_b0050","doi-asserted-by":"crossref","first-page":"E2022","DOI":"10.1210\/jc.2012-1340","article-title":"Mutation of the CYP2R1 vitamin D 25-hydroxylase in a Saudi Arabian family with severe vitamin D deficiency","volume":"97","author":"Al Mutair","year":"2012","journal-title":"J. Clin. Endocrinol. Metab."},{"issue":"9","key":"10.1016\/j.gene.2022.146809_b0055","doi-asserted-by":"crossref","first-page":"1893","DOI":"10.1002\/jbmr.3181","article-title":"Vitamin D-Dependent Rickets Type 1B (25-Hydroxylase Deficiency): A Rare Condition or a Misdiagnosed Condition?","volume":"32","author":"Molin","year":"2017","journal-title":"J. Bone Miner. Res."}],"container-title":["Gene"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S037811192200628X?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S037811192200628X?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,7]],"date-time":"2025-10-07T16:57:13Z","timestamp":1759856233000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S037811192200628X"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,11]]},"references-count":11,"alternative-id":["S037811192200628X"],"URL":"https:\/\/doi.org\/10.1016\/j.gene.2022.146809","relation":{},"ISSN":["0378-1119"],"issn-type":[{"value":"0378-1119","type":"print"}],"subject":[],"published":{"date-parts":[[2022,11]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Clinical presentation and molecular genetic analysis of a Sudanese family with a novel mutation in the CYP2R1 gene","name":"articletitle","label":"Article Title"},{"value":"Gene","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.gene.2022.146809","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2022 The Authors. Published by Elsevier B.V.","name":"copyright","label":"Copyright"}],"article-number":"146809"}}