{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,2,21]],"date-time":"2025-02-21T03:08:42Z","timestamp":1740107322743,"version":"3.37.3"},"reference-count":37,"publisher":"Springer Science and Business Media LLC","issue":"3","license":[{"start":{"date-parts":[[2023,6,6]],"date-time":"2023-06-06T00:00:00Z","timestamp":1686009600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2023,6,6]],"date-time":"2023-06-06T00:00:00Z","timestamp":1686009600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"DOI":"10.13039\/501100010256","name":"Guangzhou Municipal Science and Technology Project","doi-asserted-by":"publisher","award":["202102080455","202102020133"],"award-info":[{"award-number":["202102080455","202102020133"]}],"id":[{"id":"10.13039\/501100010256","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100021171","name":"Basic and Applied Basic Research Foundation of Guangdong Province","doi-asserted-by":"publisher","award":["2021A1515220168"],"award-info":[{"award-number":["2021A1515220168"]}],"id":[{"id":"10.13039\/501100021171","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Calcif Tissue Int"],"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Rare genetic skeletal disorders (GSDs) remain the major problem in orthopedics and result in significant morbidity in patients, but the causes are highly diverse. Precise molecular diagnosis will benefit management and genetic counseling. This study aims to share the diagnostic experience on a three-generation Chinese family with co-occurrence of spondyloepiphyseal dysplasia (SED) and X-linked hypophosphatemia (XLH), and evaluate the therapeutic effects of two third-generation siblings. The proband, his younger brother, and mother presented with short stature, skeletal problems, and hypophosphatemia. His father, paternal grandfather, and aunt also manifested short stature and skeletal deformities. Whole exome sequencing (WES) of proband\u2013brother\u2013parents initially only found the proband and his younger brother had a pathogenic c.2833G\u00a0&gt;\u00a0A(p.G945S) variant in the <jats:italic>COL2A1<\/jats:italic> gene inherited from their father. Re-analysis of WES uncovered the proband and his younger brother also harbored a pathogenic ex.12 del variant in the <jats:italic>PHEX<\/jats:italic> gene transmitted from their mother. Sanger sequencing, agarose gel electrophoresis, and quantitative polymerase chain reaction proved these results. The proband and his younger brother were confirmed to have a paternally inherited SED and a maternally inherited XLH. During a 2.8-year follow-up, these two siblings remained short stature and hypophosphatemia, but their radiographic signs and serum bone alkaline phosphatase levels were improved with treatment of oral phosphate and calcitriol. Our study presents the first report of co-occurrence of SED and XLH, shows the possibility that two different rare GSDs co-exist in a single patient, and alerts clinicians and geneticists to be cautious about this condition. Our study also suggests that next-generation sequencing has limit in detecting exon-level large deletions.<\/jats:p>","DOI":"10.1007\/s00223-023-01104-0","type":"journal-article","created":{"date-parts":[[2023,6,6]],"date-time":"2023-06-06T18:03:21Z","timestamp":1686074601000},"page":"266-275","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Co-occurrence of Spondyloepiphyseal Dysplasia and X-Linked Hypophosphatemia in a Three-Generation Chinese Family"],"prefix":"10.1007","volume":"113","author":[{"given":"Jian","family":"Ma","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2523-460X","authenticated-orcid":false,"given":"Ye","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xiaoxiao","family":"Ding","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zhijiang","family":"Liang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chaoxiang","family":"Yang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zhi","family":"Deng","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hui","family":"He","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zhihong","family":"Guan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5954-1803","authenticated-orcid":false,"given":"Chunhua","family":"Zeng","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8974-357X","authenticated-orcid":false,"given":"Yunting","family":"Lin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2347-8918","authenticated-orcid":false,"given":"Xianqiong","family":"Luo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2023,6,6]]},"reference":[{"key":"1104_CR1","doi-asserted-by":"publisher","first-page":"1038","DOI":"10.1002\/ajmg.a.35246","volume":"158A","author":"CO Barbosa-Buck","year":"2012","unstructured":"Barbosa-Buck CO, Orioli IM, da Gra\u00e7a DM et al (2012) Clinical epidemiology of skeletal dysplasias in South America. Am J Med Genet A 158A:1038\u20131045. https:\/\/doi.org\/10.1002\/ajmg.a.35246","journal-title":"Am J Med Genet A"},{"key":"1104_CR2","doi-asserted-by":"publisher","first-page":"103603","DOI":"10.1016\/j.ejmg.2018.12.008","volume":"62","author":"SP Duarte","year":"2019","unstructured":"Duarte SP, Rocha ME, Bidondo MP et al (2019) Bone dysplasias in 1.6 million births in Argentina. Eur J Med Genet 62:103603. https:\/\/doi.org\/10.1016\/j.ejmg.2018.12.008","journal-title":"Eur J Med Genet"},{"key":"1104_CR3","doi-asserted-by":"publisher","first-page":"1046","DOI":"10.1002\/ajmg.a.35327","volume":"158A","author":"DA Stevenson","year":"2012","unstructured":"Stevenson DA, Carey JC, Byrne JL et al (2012) Analysis of skeletal dysplasias in the Utah population. Am J Med Genet A 158A:1046\u20131054. https:\/\/doi.org\/10.1002\/ajmg.a.35327","journal-title":"Am J Med Genet A"},{"key":"1104_CR4","doi-asserted-by":"publisher","first-page":"575","DOI":"10.3233\/BMR-140558","volume":"28","author":"MD Sewell","year":"2015","unstructured":"Sewell MD, Chahal A, Al-Hadithy N et al (2015) Genetic skeletal dysplasias: a guide to diagnosis and management. J Back Musculoskelet Rehabil 28:575\u2013590. https:\/\/doi.org\/10.3233\/BMR-140558","journal-title":"J Back Musculoskelet Rehabil"},{"key":"1104_CR5","doi-asserted-by":"publisher","first-page":"1164","DOI":"10.1002\/ajmg.a.63132","volume":"191","author":"S Unger","year":"2023","unstructured":"Unger S, Ferreira CR, Mortier GR et al (2023) Nosology of genetic skeletal disorders: 2023 revision. Am J Med Genet A 191:1164\u20131209. https:\/\/doi.org\/10.1002\/ajmg.a.63132","journal-title":"Am J Med Genet A"},{"key":"1104_CR6","doi-asserted-by":"publisher","first-page":"769","DOI":"10.1038\/jhg.2015.112","volume":"60","author":"H Zhang","year":"2015","unstructured":"Zhang H, Yang R, Wang Y et al (2015) A pilot study of gene testing of genetic bone dysplasia using targeted next-generation sequencing. J Hum Genet 60:769\u2013776. https:\/\/doi.org\/10.1038\/jhg.2015.112","journal-title":"J Hum Genet"},{"key":"1104_CR7","doi-asserted-by":"publisher","first-page":"E38","DOI":"10.1111\/j.1440-1754.2010.01979.x","volume":"48","author":"P Kannu","year":"2012","unstructured":"Kannu P, Bateman J, Savarirayan R (2012) Clinical phenotypes associated with type II collagen mutations. J Paediatr Child Health 48:E38\u2013E43. https:\/\/doi.org\/10.1111\/j.1440-1754.2010.01979.x","journal-title":"J Paediatr Child Health"},{"key":"1104_CR8","doi-asserted-by":"publisher","first-page":"205","DOI":"10.1002\/ajmg.c.31332","volume":"160C","author":"PA Terhal","year":"2012","unstructured":"Terhal PA, van Dommelen P, Le Merrer M et al (2012) Mutation-based growth charts for SEDC and other COL2A1 related dysplasias. Am J Med Genet C Semin Med Genet 160C:205\u2013216. https:\/\/doi.org\/10.1002\/ajmg.c.31332","journal-title":"Am J Med Genet C Semin Med Genet"},{"key":"1104_CR9","doi-asserted-by":"publisher","first-page":"16","DOI":"10.1038\/nmeth1156","volume":"5","author":"SC Schuster","year":"2008","unstructured":"Schuster SC (2008) Next-generation sequencing transforms today\u2019s biology. Nat Methods 5:16\u201318. https:\/\/doi.org\/10.1038\/nmeth1156","journal-title":"Nat Methods"},{"key":"1104_CR10","doi-asserted-by":"publisher","first-page":"885","DOI":"10.1002\/eji.201747445","volume":"48","author":"Y Lin","year":"2018","unstructured":"Lin Y, Xu A, Zeng C et al (2018) Somatic and germline FOXP3 mosaicism in the mother of a boy with IPEX syndrome. Eur J Immunol 48:885\u2013887. https:\/\/doi.org\/10.1002\/eji.201747445","journal-title":"Eur J Immunol"},{"key":"1104_CR11","doi-asserted-by":"publisher","first-page":"e395","DOI":"10.1111\/1346-8138.15563","volume":"47","author":"Y Lin","year":"2020","unstructured":"Lin Y, Zeng C, Chen X et al (2020) Chinese family with Blau syndrome: mutated NOD2 allele transmitted from the father with de novo somatic and germ line mosaicism. J Dermatol 47:e395. https:\/\/doi.org\/10.1111\/1346-8138.15563","journal-title":"J Dermatol"},{"key":"1104_CR12","doi-asserted-by":"publisher","first-page":"213","DOI":"10.1186\/s12916-017-0977-3","volume":"15","author":"V Bansal","year":"2017","unstructured":"Bansal V, Gassenhuber J, Phillips T et al (2017) Spectrum of mutations in monogenic diabetes genes identified from high-throughput DNA sequencing of 6888 individuals. BMC Med 15:213. https:\/\/doi.org\/10.1186\/s12916-017-0977-3","journal-title":"BMC Med"},{"key":"1104_CR13","doi-asserted-by":"publisher","first-page":"e001345","DOI":"10.1136\/bmjdrc-2020-001345","volume":"8","author":"Y Lin","year":"2020","unstructured":"Lin Y, Sheng H, Ting TH et al (2020) Molecular and clinical characteristics of monogenic diabetes mellitus in southern Chinese children with onset before 3 years of age. BMJ Open Diabetes Res Care 8:e001345. https:\/\/doi.org\/10.1136\/bmjdrc-2020-001345","journal-title":"BMJ Open Diabetes Res Care"},{"key":"1104_CR14","doi-asserted-by":"publisher","first-page":"1085210","DOI":"10.3389\/fgene.2023.1085210","volume":"14","author":"Y Lin","year":"2023","unstructured":"Lin Y, Chen X, Xie B et al (2023) Novel variants and phenotypic heterogeneity in a cohort of 11 Chinese children with Wiedemann-Steiner syndrome. Front Genet 14:1085210. https:\/\/doi.org\/10.3389\/fgene.2023.1085210","journal-title":"Front Genet"},{"key":"1104_CR15","doi-asserted-by":"publisher","first-page":"1577","DOI":"10.1007\/s40618-020-01240-6","volume":"43","author":"Y Lin","year":"2020","unstructured":"Lin Y, Xu J, Li X et al (2020) Novel variants and uncommon cases among southern Chinese children with X-linked hypophosphatemia. J Endocrinol Invest 43:1577\u20131590. https:\/\/doi.org\/10.1007\/s40618-020-01240-6","journal-title":"J Endocrinol Invest"},{"key":"1104_CR16","first-page":"487","volume":"47","author":"H Li","year":"2009","unstructured":"Li H, Ji CY, Zong XN et al (2009) Height and weight standardized growth charts for Chinese children and adolescents aged 0 to 18 years. Zhonghua Er Ke Za Zhi 47:487\u2013492","journal-title":"Zhonghua Er Ke Za Zhi"},{"key":"1104_CR17","doi-asserted-by":"publisher","first-page":"2055","DOI":"10.1210\/jc.2005-2105","volume":"91","author":"EA Imel","year":"2006","unstructured":"Imel EA, Peacock M, Pitukcheewanont P et al (2006) Sensitivity of fibroblast growth factor 23 measurements in tumor-induced osteomalacia. J Clin Endocrinol Metab 91:2055\u20132061. https:\/\/doi.org\/10.1210\/jc.2005-2105","journal-title":"J Clin Endocrinol Metab"},{"key":"1104_CR18","doi-asserted-by":"publisher","first-page":"733","DOI":"10.1002\/ajmg.a.38059","volume":"173","author":"K Machol","year":"2017","unstructured":"Machol K, Jain M, Almannai M et al (2017) Corner fracture type spondylometaphyseal dysplasia: overlap with type II collagenopathies. Am J Med Genet A 173:733\u2013739. https:\/\/doi.org\/10.1002\/ajmg.a.38059","journal-title":"Am J Med Genet A"},{"key":"1104_CR19","doi-asserted-by":"publisher","first-page":"401","DOI":"10.1007\/s00439-009-0631-z","volume":"125","author":"C Gaucher","year":"2009","unstructured":"Gaucher C, Walrant-Debray O, Nguyen TM et al (2009) PHEX analysis in 118 pedigrees reveals new genetic clues in hypophosphatemic rickets. Hum Genet 125:401\u2013411. https:\/\/doi.org\/10.1007\/s00439-009-0631-z","journal-title":"Hum Genet"},{"key":"1104_CR20","doi-asserted-by":"publisher","first-page":"865","DOI":"10.1007\/s10545-018-0147-6","volume":"41","author":"D Chesher","year":"2018","unstructured":"Chesher D, Oddy M, Darbar U et al (2018) Outcome of adult patients with X-linked hypophosphatemia caused by PHEX gene mutations. J Inherit Metab Dis 41:865\u2013876. https:\/\/doi.org\/10.1007\/s10545-018-0147-6","journal-title":"J Inherit Metab Dis"},{"key":"1104_CR21","doi-asserted-by":"publisher","first-page":"202","DOI":"10.1002\/jbmr.4454","volume":"37","author":"ET Rush","year":"2022","unstructured":"Rush ET, Johnson B, Aradhya S et al (2022) Molecular diagnoses of X-Linked and other genetic hypophosphatemias: results from a sponsored genetic testing program. J Bone Miner Res 37:202\u2013214. https:\/\/doi.org\/10.1002\/jbmr.4454","journal-title":"J Bone Miner Res"},{"key":"1104_CR22","doi-asserted-by":"publisher","first-page":"110","DOI":"10.1186\/s12887-023-03920-7","volume":"23","author":"S P\u00e1lla","year":"2023","unstructured":"P\u00e1lla S, Anker P, Farkas K et al (2023) Co-occurrence of neurofibromatosis type 1 and pseudoachondroplasia - a first case report. BMC Pediatr 23:110. https:\/\/doi.org\/10.1186\/s12887-023-03920-7","journal-title":"BMC Pediatr"},{"key":"1104_CR23","doi-asserted-by":"publisher","first-page":"e1321","DOI":"10.1002\/mgg3.1321","volume":"8","author":"R Peces","year":"2020","unstructured":"Peces R, Mena R, Mart\u00edn Y et al (2020) Co-occurrence of neurofibromatosis type 1 and optic nerve gliomas with autosomal dominant polycystic kidney disease type 2. Mol Genet Genomic Med 8:e1321. https:\/\/doi.org\/10.1002\/mgg3.1321","journal-title":"Mol Genet Genomic Med"},{"key":"1104_CR24","doi-asserted-by":"publisher","first-page":"362","DOI":"10.4274\/jcrpe.galenos.2020.2020.0219","volume":"13","author":"T \u00c7etin","year":"2021","unstructured":"\u00c7etin T, Turan \u0130 (2021) Co-existence of congenital adrenal hyperplasia and familial hypokalemic periodic paralysis due to CYP21A2 and SCN4A pathogenic variants. J Clin Res Pediatr Endocrinol 13:362\u2013366. https:\/\/doi.org\/10.4274\/jcrpe.galenos.2020.2020.0219","journal-title":"J Clin Res Pediatr Endocrinol"},{"key":"1104_CR25","doi-asserted-by":"publisher","first-page":"71","DOI":"10.1186\/s40001-021-00543-5","volume":"26","author":"Y Ding","year":"2021","unstructured":"Ding Y, Tang X, Du Y et al (2021) Co-existence of Alport syndrome and C3 glomerulonephritis in a proband with family history. Eur J Med Res 26:71. https:\/\/doi.org\/10.1186\/s40001-021-00543-5","journal-title":"Eur J Med Res"},{"key":"1104_CR26","doi-asserted-by":"publisher","first-page":"100743","DOI":"10.1016\/j.ymgmr.2021.100743","volume":"27","author":"F Cava","year":"2021","unstructured":"Cava F, Cristiano E, Musumeci MB et al (2021) TNNI3 and KCNQ1 co-inherited variants in a family with hypertrophic cardiomyopathy and long QT phenotypes: a case report. Mol Genet Metab Rep 27:100743. https:\/\/doi.org\/10.1016\/j.ymgmr.2021.100743","journal-title":"Mol Genet Metab Rep"},{"key":"1104_CR27","doi-asserted-by":"publisher","first-page":"e0146040","DOI":"10.1371\/journal.pone.0146040","volume":"11","author":"D Lal","year":"2016","unstructured":"Lal D, Neubauer BA, Toliat MR et al (2016) Increased probability of Co-occurrence of two rare diseases in consanguineous families and resolution of a complex phenotype by next generation sequencing. PLoS One 11:e0146040. https:\/\/doi.org\/10.1371\/journal.pone.0146040","journal-title":"PLoS One"},{"key":"1104_CR28","doi-asserted-by":"publisher","first-page":"153","DOI":"10.2147\/TACG.S372761","volume":"15","author":"N Chaves Rabelo","year":"2022","unstructured":"Chaves Rabelo N, Gomes ME, de Oliveira MI et al (2022) RASopathy cohort of patients enrolled in a Brazilian reference center for rare diseases: a novel familial LZTR1 variant and recurrent mutations. Appl Clin Genet 15:153\u2013170. https:\/\/doi.org\/10.2147\/TACG.S372761","journal-title":"Appl Clin Genet"},{"key":"1104_CR29","doi-asserted-by":"publisher","first-page":"116","DOI":"10.1186\/1471-2350-12-116","volume":"12","author":"M Morey","year":"2011","unstructured":"Morey M, Castro-Feij\u00f3o L, Barreiro J et al (2011) Genetic diagnosis of X-linked dominant Hypophosphatemic rickets in a cohort study: tubular reabsorption of phosphate and 1,25(OH)2D serum levels are associated with PHEX mutation type. BMC Med Genet 12:116. https:\/\/doi.org\/10.1186\/1471-2350-12-116","journal-title":"BMC Med Genet"},{"key":"1104_CR30","doi-asserted-by":"publisher","first-page":"212","DOI":"10.1016\/j.bone.2019.01.021","volume":"21","author":"C Zhang","year":"2019","unstructured":"Zhang C, Zhao Z, Sun Y et al (2019) Clinical and genetic analysis in a large Chinese cohort of patients with X-linked hypophosphatemia. Bone 21:212\u2013220. https:\/\/doi.org\/10.1016\/j.bone.2019.01.021","journal-title":"Bone"},{"key":"1104_CR31","doi-asserted-by":"publisher","first-page":"641543","DOI":"10.3389\/fendo.2021.641543","volume":"12","author":"MR Laurent","year":"2021","unstructured":"Laurent MR, De Schepper J, Trouet D et al (2021) Consensus recommendations for the diagnosis and management of X-linked hypophosphatemia in Belgium. Front Endocrinol (Lausanne) 12:641543. https:\/\/doi.org\/10.3389\/fendo.2021.641543","journal-title":"Front Endocrinol (Lausanne)"},{"key":"1104_CR32","doi-asserted-by":"publisher","first-page":"1034580","DOI":"10.3389\/fendo.2022.1034580","volume":"13","author":"MZ Mughal","year":"2023","unstructured":"Mughal MZ, Baroncelli GI, de Lucas-Collantes C et al (2023) Burosumab for X-linked hypophosphatemia in children and adolescents: opinion based on early experience in seven European countries. Front Endocrinol (Lausanne) 13:1034580. https:\/\/doi.org\/10.3389\/fendo.2022.1034580","journal-title":"Front Endocrinol (Lausanne)"},{"key":"1104_CR33","doi-asserted-by":"publisher","first-page":"379","DOI":"10.1136\/archdischild-2022-324962","volume":"108","author":"EYX Walker","year":"2023","unstructured":"Walker EYX, Lindsay TAJ, Allgrove J et al (2023) Burosumab in management of X-linked hypophosphataemia: a retrospective cohort study of growth and serum phosphate levels. Arch Dis Child 108:379\u2013384. https:\/\/doi.org\/10.1136\/archdischild-2022-324962","journal-title":"Arch Dis Child"},{"key":"1104_CR34","doi-asserted-by":"publisher","first-page":"2416","DOI":"10.1016\/S0140-6736(19)30654-3","volume":"393","author":"EA Imel","year":"2019","unstructured":"Imel EA, Glorieux FH, Whyte MP et al (2019) Burosumab versus continuation of conventional therapy in children with X-linked hypophosphatemia: a randomised, active-controlled, open-label, phase 3 trial. Lancet 393:2416\u20132427. https:\/\/doi.org\/10.1016\/S0140-6736(19)30654-3","journal-title":"Lancet"},{"key":"1104_CR35","doi-asserted-by":"publisher","first-page":"83","DOI":"10.1016\/j.jbspin.2013.06.007","volume":"81","author":"P Lankisch","year":"2014","unstructured":"Lankisch P, H\u00f6nscheid A, Schaper J et al (2014) COL2A1 mutation as a cause of premature osteoarthritis in a 13-year-old child. Joint Bone Spine 81:83\u201385. https:\/\/doi.org\/10.1016\/j.jbspin.2013.06.007","journal-title":"Joint Bone Spine"},{"key":"1104_CR36","doi-asserted-by":"publisher","first-page":"437.e1","DOI":"10.1016\/j.wneu.2012.01.030","volume":"80","author":"A Veeravagu","year":"2013","unstructured":"Veeravagu A, Lad SP, Camara-Quintana JQ et al (2013) Neurosurgical interventions for spondyloepiphyseal dysplasia congenita: clinical presentation and assessment of the literature. World Neurosurg 80:437.e1-e8. https:\/\/doi.org\/10.1016\/j.wneu.2012.01.030","journal-title":"World Neurosurg"},{"key":"1104_CR37","doi-asserted-by":"publisher","first-page":"e13780","DOI":"10.1097\/MD.0000000000013780","volume":"98","author":"A Al Kaissi","year":"2019","unstructured":"Al Kaissi A, Ryabykh S, Pavlova OM et al (2019) The Managment of cervical spine abnormalities in children with spondyloepiphyseal dysplasia congenita: observational study. Medicine (Baltimore) 98:e13780. https:\/\/doi.org\/10.1097\/MD.0000000000013780","journal-title":"Medicine (Baltimore)"}],"container-title":["Calcified Tissue International"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s00223-023-01104-0.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s00223-023-01104-0\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s00223-023-01104-0.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,24]],"date-time":"2023-08-24T18:04:25Z","timestamp":1692900265000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s00223-023-01104-0"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,6,6]]},"references-count":37,"journal-issue":{"issue":"3","published-online":{"date-parts":[[2023,9]]}},"alternative-id":["1104"],"URL":"https:\/\/doi.org\/10.1007\/s00223-023-01104-0","relation":{},"ISSN":["1432-0827"],"issn-type":[{"type":"electronic","value":"1432-0827"}],"subject":[],"published":{"date-parts":[[2023,6,6]]},"assertion":[{"value":"22 April 2023","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"25 May 2023","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"6 June 2023","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"Jian Ma, Ye Zhang, Xiaoxiao Ding, Zhijiang Liang, Chaoxiang Yang, Zhi Deng, Hui He, Zhihong Guan, Chunhua Zeng, Yunting Lin, and Xianqiong Luo declare that they have no conflict of interest.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of interest"}},{"value":"The study was approved by the Institutional Review Board of Guangdong Women and Children Hospital (Guangzhou, China) (No. 202101139) and the Institutional Review Board of Guangzhou Women and Children\u2019s Medical Center (Guangzhou, China) (No. 2015-112).","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethical Approval"}},{"value":"Informed consents were obtained from the participants or the guardians of under-aged participants.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent to Participate"}},{"value":"Informed consents were obtained from the participants or the guardians of under-aged participants.","order":5,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent to Publish"}}]}}