{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,17]],"date-time":"2026-08-17T16:50:43Z","timestamp":1786985443372,"version":"build-2736575974"},"reference-count":25,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2023,11,1]],"date-time":"2023-11-01T00:00:00Z","timestamp":1698796800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2023,11,1]],"date-time":"2023-11-01T00:00:00Z","timestamp":1698796800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2023,7,18]],"date-time":"2023-07-18T00:00:00Z","timestamp":1689638400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/100008572","name":"University of Ottawa","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100008572","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100010090","name":"Women and Children's Health Research Institute","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100010090","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000190","name":"University of Alberta","doi-asserted-by":"publisher","award":["RES0047376"],"award-info":[{"award-number":["RES0047376"]}],"id":[{"id":"10.13039\/501100000190","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":[[2023,11]]},"DOI":"10.1016\/j.bone.2023.116839","type":"journal-article","created":{"date-parts":[[2023,7,16]],"date-time":"2023-07-16T17:21:22Z","timestamp":1689528082000},"page":"116839","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":11,"special_numbering":"C","title":["X-linked hypophosphatemia caused by a deep intronic variant in PHEX identified by PCR-based RNA analysis of urine-derived cells"],"prefix":"10.1016","volume":"176","author":[{"given":"Chelsey","family":"Grimbly","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karissa","family":"Ludwig","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zenghui","family":"Wu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Oana","family":"Caluseriu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elizabeth","family":"Rosolowsky","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R. Todd","family":"Alexander","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Leanne M.","family":"Ward","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Frank","family":"Rauch","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.bone.2023.116839_bb0005","doi-asserted-by":"crossref","first-page":"473","DOI":"10.1038\/s41574-022-00682-7","article-title":"Skeletal and extraskeletal disorders of biomineralization","volume":"18","author":"Collins","year":"2022","journal-title":"Nat. Rev. Endocrinol."},{"key":"10.1016\/j.bone.2023.116839_bb0010","doi-asserted-by":"crossref","first-page":"1843","DOI":"10.1007\/s00467-019-04290-y","article-title":"Mineralized tissues in hypophosphatemic rickets","volume":"35","author":"Robinson","year":"2020","journal-title":"Pediatr. Nephrol."},{"key":"10.1016\/j.bone.2023.116839_bb0015","doi-asserted-by":"crossref","first-page":"151","DOI":"10.1016\/j.bone.2016.11.019","article-title":"Osteopontin and the dento-osseous pathobiology of X-linked hypophosphatemia","volume":"95","author":"Boukpessi","year":"2017","journal-title":"Bone."},{"key":"10.1016\/j.bone.2023.116839_bb0020","doi-asserted-by":"crossref","DOI":"10.1016\/j.jsb.2020.107556","article-title":"Alterations of bone material properties in adult patients with X-linked hypophosphatemia (XLH)","volume":"211","author":"Fratzl-Zelman","year":"2020","journal-title":"J. Struct. Biol."},{"key":"10.1016\/j.bone.2023.116839_bb0025","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."},{"key":"10.1016\/j.bone.2023.116839_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."},{"key":"10.1016\/j.bone.2023.116839_bb0035","doi-asserted-by":"crossref","first-page":"3840","DOI":"10.1210\/jcem.86.8.7730","article-title":"X-linked hypophosphatemia attributable to pseudoexons of the PHEX gene","volume":"86","author":"Christie","year":"2001","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"10.1016\/j.bone.2023.116839_bb0040","doi-asserted-by":"crossref","first-page":"59","DOI":"10.1007\/s00439-022-02485-2","article-title":"RNA-seq analysis, targeted long-read sequencing and in silico prediction to unravel pathogenic intronic events and complicated splicing abnormalities in dystrophinopathy","volume":"142","author":"Okubo","year":"2023","journal-title":"Hum. Genet."},{"key":"10.1016\/j.bone.2023.116839_bb0045","doi-asserted-by":"crossref","first-page":"2183","DOI":"10.1002\/jbmr.3843","article-title":"Burosumab improved histomorphometric measures of osteomalacia in adults with X-linked hypophosphatemia: a phase 3, single-arm, international trial","volume":"34","author":"Insogna","year":"2019","journal-title":"J. Bone Miner. Res."},{"key":"10.1016\/j.bone.2023.116839_bb0050","doi-asserted-by":"crossref","first-page":"3541","DOI":"10.1210\/jc.2011-1239","article-title":"Iron modifies plasma FGF23 differently in autosomal dominant hypophosphatemic rickets and healthy humans","volume":"96","author":"Imel","year":"2011","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"10.1016\/j.bone.2023.116839_bb0055","doi-asserted-by":"crossref","DOI":"10.1016\/j.bone.2019.115137","article-title":"Iron replacement ameliorates hypophosphatemia in autosomal dominant hypophosphatemic rickets: a review of the role of iron","volume":"131","author":"Menon","year":"2020","journal-title":"Bone."},{"key":"10.1016\/j.bone.2023.116839_bb0060","doi-asserted-by":"crossref","first-page":"45","DOI":"10.1542\/peds.109.1.45","article-title":"Centers for Disease Control and Prevention 2000 growth charts for the United States: improvements to the 1977 National Center for Health Statistics version","volume":"109","author":"Ogden","year":"2002","journal-title":"Pediatrics."},{"key":"10.1016\/j.bone.2023.116839_bb0065","doi-asserted-by":"crossref","first-page":"3160","DOI":"10.1210\/jc.2011-1111","article-title":"Revised reference curves for bone mineral content and areal bone mineral density according to age and sex for black and non-black children: results of the bone mineral density in childhood study","volume":"96","author":"Zemel","year":"2011","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"10.1016\/j.bone.2023.116839_bb0070","doi-asserted-by":"crossref","first-page":"103","DOI":"10.1016\/S8756-3282(99)00257-4","article-title":"Normative data for iliac bone histomorphometry in growing children","volume":"26","author":"Glorieux","year":"2000","journal-title":"Bone."},{"key":"10.1016\/j.bone.2023.116839_bb0075","doi-asserted-by":"crossref","DOI":"10.1002\/jbmr.4865","article-title":"RNA sequencing of urine-derived cells for the characterisation and diagnosis of osteogenesis imperfecta","author":"Ludwig","year":"2023","journal-title":"J. Bone Miner. Res."},{"key":"10.1016\/j.bone.2023.116839_bb0080","doi-asserted-by":"crossref","first-page":"434","DOI":"10.1038\/s41586-020-2308-7","article-title":"The mutational constraint spectrum quantified from variation in 141,456 humans","volume":"581","author":"Karczewski","year":"2020","journal-title":"Nature."},{"issue":"535\u201348","key":"10.1016\/j.bone.2023.116839_bb0085","article-title":"Predicting splicing from primary sequence with deep learning","volume":"176","author":"Jaganathan","year":"2019","journal-title":"Cell."},{"key":"10.1016\/j.bone.2023.116839_bb0090","doi-asserted-by":"crossref","first-page":"406","DOI":"10.1038\/s41580-019-0126-2","article-title":"Quality and quantity control of gene expression by nonsense-mediated mRNA decay","volume":"20","author":"Kurosaki","year":"2019","journal-title":"Nat. Rev. Mol. Cell Biol."},{"key":"10.1016\/j.bone.2023.116839_bb0095","first-page":"3233","article-title":"Mutational analysis in X-linked spondyloepiphyseal dysplasia tarda","volume":"86","author":"Christie","year":"2001","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"10.1016\/j.bone.2023.116839_bb0100","doi-asserted-by":"crossref","first-page":"130","DOI":"10.1016\/j.gim.2021.09.001","article-title":"Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants","volume":"24","author":"Bournazos","year":"2022","journal-title":"Genet. Med."},{"key":"10.1016\/j.bone.2023.116839_bb0105","first-page":"615","article-title":"Genetic diagnosis of Duchenne and Becker muscular dystrophy through mRNA analysis: new splicing events","author":"Segarra-Casas","year":"2022","journal-title":"J. Med. Genet."},{"key":"10.1016\/j.bone.2023.116839_bb0110","doi-asserted-by":"crossref","first-page":"387","DOI":"10.1038\/s10038-022-01016-1","article-title":"Genome sequencing and RNA sequencing of urinary cells reveal an intronic FBN1 variant causing aberrant splicing","volume":"67","author":"Hiraide","year":"2022","journal-title":"J. Hum. Genet."},{"key":"10.1016\/j.bone.2023.116839_bb0115","article-title":"RNA-seq in DMD urinary stem cells recognized muscle-related transcription signatures and addressed the identification of atypical mutations by whole-genome sequencing","volume":"3","author":"Falzarano","year":"2022","journal-title":"HGG Adv."},{"key":"10.1016\/j.bone.2023.116839_bb0120","doi-asserted-by":"crossref","first-page":"861","DOI":"10.1038\/s41588-023-01373-3","article-title":"Aberrant splicing prediction across human tissues","author":"Wagner","year":"2023","journal-title":"Nat. Genet."},{"key":"10.1016\/j.bone.2023.116839_bb0125","doi-asserted-by":"crossref","first-page":"31","DOI":"10.1016\/S0221-8747(81)80020-3","article-title":"Histomorphometric study of bone remodeling in hypophosphatemic vitamin D-resistant rickets","volume":"3","author":"Marie","year":"1981","journal-title":"Metab. Bone Dis. Relat. Res."}],"container-title":["Bone"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S8756328223001722?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S8756328223001722?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,11,9]],"date-time":"2025-11-09T03:45:53Z","timestamp":1762659953000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S8756328223001722"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,11]]},"references-count":25,"alternative-id":["S8756328223001722"],"URL":"https:\/\/doi.org\/10.1016\/j.bone.2023.116839","relation":{},"ISSN":["8756-3282"],"issn-type":[{"value":"8756-3282","type":"print"}],"subject":[],"published":{"date-parts":[[2023,11]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"X-linked hypophosphatemia caused by a deep intronic variant in PHEX identified by PCR-based RNA analysis of urine-derived cells","name":"articletitle","label":"Article Title"},{"value":"Bone","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.bone.2023.116839","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2023 The Authors. Published by Elsevier Inc.","name":"copyright","label":"Copyright"}],"article-number":"116839"}}