{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,29]],"date-time":"2026-04-29T18:26:37Z","timestamp":1777487197568,"version":"3.51.4"},"reference-count":16,"publisher":"Elsevier BV","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":[[2024,4,21]],"date-time":"2024-04-21T00:00:00Z","timestamp":1713657600000},"content-version":"am","delay-in-days":295,"URL":"http:\/\/www.elsevier.com\/open-access\/userlicense\/1.0\/"},{"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\/100006823","name":"Boston Childrens Hospital","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100006823","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100009633","name":"Eunice Kennedy Shriver National Institute of Child Health and Human Development","doi-asserted-by":"publisher","award":["U54HD090255"],"award-info":[{"award-number":["U54HD090255"]}],"id":[{"id":"10.13039\/100009633","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":["Bone"],"published-print":{"date-parts":[[2023,7]]},"DOI":"10.1016\/j.bone.2023.116763","type":"journal-article","created":{"date-parts":[[2023,4,13]],"date-time":"2023-04-13T05:56:05Z","timestamp":1681365365000},"page":"116763","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":6,"special_numbering":"C","title":["X-linked hypophosphatemia in 4 generations due to an exon 13\u201315 duplication in PHEX, in the absence of the c.*231A&gt;G variant"],"prefix":"10.1016","volume":"172","author":[{"given":"Julio","family":"Soto Barros","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sabrina I.","family":"Sanchez","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kristin","family":"Cabral","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alan H.","family":"Beggs","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pankaj B.","family":"Agrawal","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Casie A.","family":"Genetti","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Catherine A.","family":"Brownstein","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Thomas O.","family":"Carpenter","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"issue":"4","key":"10.1016\/j.bone.2023.116763_bb0005","doi-asserted-by":"crossref","first-page":"455","DOI":"10.1016\/j.beem.2018.05.009","article-title":"Hypocalcaemic and hypophosphatemic rickets","volume":"32","author":"Lambert","year":"2018","journal-title":"Best Pract. Res. Clin. Endocrinol. Metab."},{"issue":"6","key":"10.1016\/j.bone.2023.116763_bb0010","doi-asserted-by":"crossref","first-page":"366","DOI":"10.1038\/s41574-022-00662-x","article-title":"Interdisciplinary management of FGF23-related phosphate wasting syndromes: a consensus statement on the evaluation, diagnosis and care of patients with X-linked hypophosphataemia","volume":"18","author":"Trombetti","year":"2022","journal-title":"Nat. Rev. Endocrinol."},{"issue":"2","key":"10.1016\/j.bone.2023.116763_bb0015","doi-asserted-by":"crossref","first-page":"130","DOI":"10.1038\/ng1095-130","article-title":"A gene (PEX) with homologies to endopeptidases is mutated in patients with X-linked hypophosphatemic rickets. The HYP Consortium","volume":"11","year":"1995","journal-title":"Nat. Genet."},{"issue":"1","key":"10.1016\/j.bone.2023.116763_bb0020","doi-asserted-by":"crossref","first-page":"179","DOI":"10.1016\/j.pcl.2018.09.004","article-title":"Hypophosphatemic rickets","volume":"66","author":"Bitzan","year":"2019","journal-title":"Pediatr. Clin. N. Am."},{"issue":"1","key":"10.1016\/j.bone.2023.116763_bb0025","doi-asserted-by":"crossref","first-page":"19","DOI":"10.1016\/j.ecl.2016.09.013","article-title":"Fibroblast growth Factor 23-mediated bone disease","volume":"46","author":"Gonciulea","year":"2017","journal-title":"Endocrinol. Metab. Clin. N. Am."},{"issue":"2","key":"10.1016\/j.bone.2023.116763_bb0030","doi-asserted-by":"crossref","first-page":"143","DOI":"10.1002\/humu.24296","article-title":"Novel PHEX gene locus-specific database: Comprehensive characterization of vast number of variants associated with X-linked hypophosphatemia (XLH)","volume":"43","author":"Sarafrazi","year":"2022","journal-title":"Hum Mutat."},{"issue":"4","key":"10.1016\/j.bone.2023.116763_bb0035","doi-asserted-by":"crossref","first-page":"663","DOI":"10.1016\/j.bone.2008.06.002","article-title":"Mutational survey of the PHEX gene in patients with X-linked hypophosphatemic rickets","volume":"43","author":"Ichikawa","year":"2008","journal-title":"Bone"},{"issue":"5","key":"10.1016\/j.bone.2023.116763_bb0040","doi-asserted-by":"crossref","first-page":"920","DOI":"10.1002\/jbmr.3955","article-title":"X-linked hypophosphatemia: uniquely mild disease associated with PHEX 3'-UTR mutation c.*231A>G (a retrospective case-control study)","volume":"35","author":"Smith","year":"2020","journal-title":"J. Bone Miner. Res."},{"issue":"2","key":"10.1016\/j.bone.2023.116763_bb0045","doi-asserted-by":"crossref","first-page":"202","DOI":"10.1002\/jbmr.4454","article-title":"Molecular diagnoses of X-linked and other genetic hypophosphatemias: results from a sponsored genetic testing program","volume":"37","author":"Rush","year":"2022","journal-title":"J. Bone Miner. Res."},{"issue":"1","key":"10.1016\/j.bone.2023.116763_bb0050","doi-asserted-by":"crossref","first-page":"137","DOI":"10.1002\/jbmr.2307","article-title":"PHEX 3'-UTR c.*231A>G near the polyadenylation signal is a relatively common, mild, American mutation that masquerades as sporadic or X-linked recessive hypophosphatemic rickets","volume":"30","author":"Mumm","year":"2015","journal-title":"J. Bone Miner. Res."},{"key":"10.1016\/j.bone.2023.116763_bb0055","doi-asserted-by":"crossref","DOI":"10.1002\/jbm4.10692","article-title":"X-linked hypophosphatemia caused by the prevailing North American PHEX variant c.*231A>G; exon 13\u201315 duplication is often misdiagnosed as ankylosing spondylitis and manifests in both men and women","author":"Dahir","year":"2022","journal-title":"JBMR Plus"},{"issue":"5","key":"10.1016\/j.bone.2023.116763_bb0060","doi-asserted-by":"crossref","DOI":"10.1101\/mcs.a001008","article-title":"A novel de novo mutation in ATP1A3 and childhood-onset schizophrenia","volume":"2","author":"Smedemark-Margulies","year":"2016","journal-title":"Cold Spring Harb. Mol. Case Stud."},{"issue":"2","key":"10.1016\/j.bone.2023.116763_bb0065","doi-asserted-by":"crossref","first-page":"193","DOI":"10.1002\/acn3.51506","article-title":"Mendelian etiologies identified with whole exome sequencing in cerebral palsy","volume":"9","author":"Chopra","year":"2022","journal-title":"Ann. Clin. Transl. Neurol."},{"issue":"2","key":"10.1016\/j.bone.2023.116763_bb0070","doi-asserted-by":"crossref","first-page":"245","DOI":"10.1038\/s41436-019-0686-8","article-title":"Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen)","volume":"22","author":"Riggs","year":"2020","journal-title":"Genet. Med."},{"issue":"5","key":"10.1016\/j.bone.2023.116763_bb0075","doi-asserted-by":"crossref","first-page":"645","DOI":"10.1007\/BF00858154","article-title":"Assessment and interpretation of the tubular threshold for phosphate in infants and children","volume":"8","author":"Brodehl","year":"1994","journal-title":"Pediatr. Nephrol."},{"issue":"2","key":"10.1016\/j.bone.2023.116763_bb0080","doi-asserted-by":"crossref","first-page":"125","DOI":"10.1159\/000184216","article-title":"Direct measurement of TP\/GFR: a simple and reliable parameter of renal phosphate handling","volume":"44","author":"Stark","year":"1986","journal-title":"Nephron"}],"container-title":["Bone"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S8756328223000960?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S8756328223000960?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,9,11]],"date-time":"2025-09-11T18:06:32Z","timestamp":1757613992000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S8756328223000960"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,7]]},"references-count":16,"alternative-id":["S8756328223000960"],"URL":"https:\/\/doi.org\/10.1016\/j.bone.2023.116763","relation":{},"ISSN":["8756-3282"],"issn-type":[{"value":"8756-3282","type":"print"}],"subject":[],"published":{"date-parts":[[2023,7]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"X-linked hypophosphatemia in 4 generations due to an exon 13\u201315 duplication in PHEX, in the absence of the c.*231A>G variant","name":"articletitle","label":"Article Title"},{"value":"Bone","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.bone.2023.116763","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2023 Elsevier Inc. All rights reserved.","name":"copyright","label":"Copyright"}],"article-number":"116763"}}