{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,26]],"date-time":"2025-12-26T14:47:43Z","timestamp":1766760463959,"version":"3.44.0"},"reference-count":49,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2023,12,1]],"date-time":"2023-12-01T00:00:00Z","timestamp":1701388800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2023,12,1]],"date-time":"2023-12-01T00:00:00Z","timestamp":1701388800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2023,12,1]],"date-time":"2023-12-01T00:00:00Z","timestamp":1701388800000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-017"},{"start":{"date-parts":[[2023,12,1]],"date-time":"2023-12-01T00:00:00Z","timestamp":1701388800000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-037"},{"start":{"date-parts":[[2023,12,1]],"date-time":"2023-12-01T00:00:00Z","timestamp":1701388800000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-012"},{"start":{"date-parts":[[2023,12,1]],"date-time":"2023-12-01T00:00:00Z","timestamp":1701388800000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-029"},{"start":{"date-parts":[[2023,12,1]],"date-time":"2023-12-01T00:00:00Z","timestamp":1701388800000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-004"}],"funder":[{"DOI":"10.13039\/100021036","name":"Turk Pediatri Kurumu","doi-asserted-by":"publisher","award":["04\/14.2.2019"],"award-info":[{"award-number":["04\/14.2.2019"]}],"id":[{"id":"10.13039\/100021036","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100016003","name":"Istanbul \u00dcniversitesi-Cerrahpasa","doi-asserted-by":"publisher","award":["TSA-2020-34956"],"award-info":[{"award-number":["TSA-2020-34956"]}],"id":[{"id":"10.13039\/501100016003","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":[[2023,12]]},"DOI":"10.1016\/j.bone.2023.116897","type":"journal-article","created":{"date-parts":[[2023,9,11]],"date-time":"2023-09-11T02:15:22Z","timestamp":1694398522000},"page":"116897","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":4,"special_numbering":"C","title":["The molecular spectrum of Turkish osteopetrosis and related osteoclast disorders with natural history, including a candidate gene, CCDC120"],"prefix":"10.1016","volume":"177","author":[{"given":"Beyhan","family":"T\u00fcys\u00fcz","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Esra","family":"Usluer","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dilek","family":"Uluda\u011f Alkaya","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S\u00fcheyla","family":"Ocak","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Seha","family":"Sayg\u0131l\u0131","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ali","family":"\u015eeker","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hilmi","family":"Apak","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"issue":"5","key":"10.1016\/j.bone.2023.116897_bb0005","doi-asserted-by":"crossref","first-page":"707","DOI":"10.1016\/j.beem.2018.06.003","article-title":"Sclerosing bone dysplasias","volume":"32","author":"Boudin","year":"2018","journal-title":"Best Pract. Res. Clin. Endocrinol. Metab."},{"key":"10.1016\/j.bone.2023.116897_bb0010","first-page":"1","article-title":"Nosology of genetic skeletal disorders: 2023 revision","author":"Unger","year":"2023","journal-title":"Am. J. Med. Genet. A"},{"issue":"9","key":"10.1016\/j.bone.2023.116897_bb0015","doi-asserted-by":"crossref","first-page":"522","DOI":"10.1038\/nrendo.2013.137","article-title":"Osteopetrosis: genetics, treatment and new insights into osteoclast function","volume":"9","author":"Sobacchi","year":"2013","journal-title":"Nat. Rev. Endocrinol."},{"issue":"9","key":"10.1016\/j.bone.2023.116897_bb0020","doi-asserted-by":"crossref","first-page":"3111","DOI":"10.1210\/jc.2017-01127","article-title":"Diagnosis and management of osteopetrosis: consensus guidelines from the osteopetrosis working group","volume":"102","author":"Wu","year":"2017","journal-title":"J. Clin. Endocrinol. Metab."},{"issue":"5","key":"10.1016\/j.bone.2023.116897_bb0025","doi-asserted-by":"crossref","first-page":"263","DOI":"10.1007\/s00223-005-0027-6","article-title":"A clinical and molecular overview of the human osteopetroses","volume":"77","author":"Balemans","year":"2005","journal-title":"Calcif. Tissue Int."},{"issue":"1","key":"10.1016\/j.bone.2023.116897_bb0030","doi-asserted-by":"crossref","first-page":"19","DOI":"10.1016\/j.bone.2007.08.029","article-title":"Genetics, pathogenesis and complications of osteopetrosis","volume":"42","author":"Del Fattore","year":"2008","journal-title":"Bone"},{"issue":"1","key":"10.1016\/j.bone.2023.116897_bb0035","doi-asserted-by":"crossref","first-page":"13","DOI":"10.1007\/s11914-018-0415-2","article-title":"Genetics of osteopetrosis","volume":"16","author":"Palagano","year":"2018","journal-title":"Curr. Osteoporos. Rep."},{"key":"10.1016\/j.bone.2023.116897_bb0040","doi-asserted-by":"crossref","first-page":"343","DOI":"10.1038\/77131","article-title":"Defects in TCIRG1 subunit of the vacuolar proton pump are responsible for a subset of human autosomal recessive osteopetrosis","volume":"25","author":"Frattini","year":"2000","journal-title":"Nat. Genet."},{"key":"10.1016\/j.bone.2023.116897_bb0045","doi-asserted-by":"crossref","first-page":"447","DOI":"10.1038\/70563","article-title":"Atp6i-deficient mice exhibit severe osteopetrosis due to loss of osteoclast-mediated extracellular acidification","volume":"23","author":"Li","year":"1999","journal-title":"Nat. Genet."},{"key":"10.1016\/j.bone.2023.116897_bb0050","doi-asserted-by":"crossref","first-page":"2059","DOI":"10.1093\/hmg\/9.13.2059","article-title":"Mutations in the a3 subunit of the vacuolar H(\u015f)-ATPase cause infantile malignant osteopetrosis","volume":"9","author":"Kornak","year":"2000","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.bone.2023.116897_bb0055","doi-asserted-by":"crossref","first-page":"205","DOI":"10.1016\/S0092-8674(01)00206-9","article-title":"Loss of the ClC-7 chloride channel leads to osteopetrosis in mice and man","volume":"104","author":"Kornak","year":"2001","journal-title":"Cell"},{"key":"10.1016\/j.bone.2023.116897_bb0060","doi-asserted-by":"crossref","first-page":"221","DOI":"10.1136\/jmedgenet-2011-100520","article-title":"An SNX10 mutation causes malignant osteopetrosis of infancy","volume":"49","author":"Aker","year":"2012","journal-title":"J. Med. Genet."},{"issue":"1","key":"10.1016\/j.bone.2023.116897_bb0065","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1007\/s00223-008-9196-4","article-title":"Infantile malignant, autosomal recessive osteopetrosis: the rich and the poor","volume":"84","author":"Villa","year":"2009","journal-title":"Calcif. Tissue Int."},{"key":"10.1016\/j.bone.2023.116897_bb0070","doi-asserted-by":"crossref","DOI":"10.1016\/j.bone.2022.116577","article-title":"Phenotype-autosomal recessive osteopetrosis","volume":"165","author":"Pillai","year":"2022","journal-title":"Bone"},{"issue":"17","key":"10.1016\/j.bone.2023.116897_bb0075","doi-asserted-by":"crossref","first-page":"1767","DOI":"10.1093\/hmg\/10.17.1767","article-title":"The mutational spectrum of human malignant autosomal recessive osteopetrosis","volume":"10","author":"Sobacchi","year":"2001","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.bone.2023.116897_bb0080","doi-asserted-by":"crossref","DOI":"10.1016\/j.bone.2022.116541","article-title":"Osteoclast-poor osteopetrosis","volume":"164","author":"Sobacchi","year":"2022","journal-title":"Bone"},{"key":"10.1016\/j.bone.2023.116897_bb0085","doi-asserted-by":"crossref","first-page":"64","DOI":"10.1016\/j.ajhg.2008.06.015","article-title":"Human osteoclast-poor osteopetrosis with hypogammaglobulinemia due to TNFRSF11A (RANK) mutations","volume":"83","author":"Guerrini","year":"2008","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.bone.2023.116897_bb0090","doi-asserted-by":"crossref","first-page":"900","DOI":"10.3390\/genes14040900","article-title":"Outlining the clinical profile of TCIRG1 14 variants including 5 novels with overview of ARO phenotype and ethnic impact in 20 Egyptian families","volume":"14","author":"El-Kamah","year":"2023","journal-title":"Genes"},{"issue":"4","key":"10.1016\/j.bone.2023.116897_bb0095","doi-asserted-by":"crossref","first-page":"315","DOI":"10.1136\/jmg.2005.036673","article-title":"Clinical, genetic, and cellular analysis of 49 osteopetrotic patients: implications for diagnosis and treatment","volume":"43","author":"Del Fattore","year":"2006","journal-title":"J. Med. Genet."},{"key":"10.1016\/j.bone.2023.116897_bb0100","doi-asserted-by":"crossref","first-page":"2713","DOI":"10.1007\/s00198-011-1878-5","article-title":"Autosomal recessive osteopetrosis: report of 41 novel mutations in the TCIRG1 gene and diagnostic implications","volume":"23","author":"Pangrazio","year":"2012","journal-title":"Osteoporos. Int."},{"issue":"10","key":"10.1016\/j.bone.2023.116897_bb0105","doi-asserted-by":"crossref","first-page":"1740","DOI":"10.1359\/jbmr.2003.18.10.1740","article-title":"Chloride channel CLCN7 mutations are responsible for severe recessive, dominant, and intermediate osteopetrosis","volume":"18","author":"Frattini","year":"2003","journal-title":"J. Bone Miner. Res."},{"key":"10.1016\/j.bone.2023.116897_bb0110","doi-asserted-by":"crossref","DOI":"10.1016\/j.bone.2022.116634","article-title":"Hematopoietic stem cell transplantation, a curative approach in infantile osteopetrosis","volume":"167","author":"Schulz","year":"2023","journal-title":"Bone"},{"key":"10.1016\/j.bone.2023.116897_bb0115","doi-asserted-by":"crossref","DOI":"10.1016\/j.bone.2023.116684","article-title":"Carbonic anhydrase II deficiency","volume":"169","author":"Whyte","year":"2023","journal-title":"Bone"},{"issue":"3","key":"10.1016\/j.bone.2023.116897_bb0120","doi-asserted-by":"crossref","first-page":"771","DOI":"10.1210\/jc.2006-1986","article-title":"Autosomal dominant osteopetrosis: clinical severity and natural history of 94 subjects with a chloride channel 7 gene mutation","volume":"92","author":"Waguespack","year":"2007","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"10.1016\/j.bone.2023.116897_bb0125","doi-asserted-by":"crossref","DOI":"10.1016\/j.bone.2023.116674","article-title":"Pycnodysostosis in children and adults","volume":"169","author":"Hald","year":"2023","journal-title":"Bone"},{"key":"10.1016\/j.bone.2023.116897_bb0130","first-page":"191","article-title":"Diagnostic and statistical manual of mental disorders (DSM)","volume":"25","author":"Battle","year":"2013","journal-title":"Codas."},{"key":"10.1016\/j.bone.2023.116897_bb0135","article-title":"Clinical presentation and analysis of genotype-phenotype correlations in patients with malignant infantile osteopetrosis","volume":"154","author":"Even-Or","year":"2021","journal-title":"Bone"},{"key":"10.1016\/j.bone.2023.116897_bb0140","doi-asserted-by":"crossref","first-page":"188","DOI":"10.1016\/j.ejmg.2007.01.005","article-title":"Molecular study of six families originating from the Middle-East and presenting with autosomal recessive osteopetrosis","volume":"50","author":"Souraty","year":"2007","journal-title":"Eur. J. Med. Genet."},{"issue":"10","key":"10.1016\/j.bone.2023.116897_bb0150","doi-asserted-by":"crossref","first-page":"1814","DOI":"10.1002\/jbmr.2517","article-title":"Buried in the middle but guilty: intronic mutations in the TCIRG1 gene cause human autosomal recessive osteopetrosis","volume":"30","author":"Palagano","year":"2015","journal-title":"J. Bone Miner. Res."},{"key":"10.1016\/j.bone.2023.116897_bb0155","doi-asserted-by":"crossref","first-page":"1456","DOI":"10.1038\/aps.2017.108","article-title":"Novel mutations of TCIRG1 cause a malignant and mild phenotype of autosomal recessive osteopetrosis (ARO) in four Chinese families","volume":"38","author":"Zhang","year":"2017","journal-title":"Acta Pharmacol. Sin."},{"issue":"7","key":"10.1016\/j.bone.2023.116897_bb0160","doi-asserted-by":"crossref","first-page":"1646","DOI":"10.1002\/jbmr.2203","article-title":"As little as needed: the extraordinary case of a mild recessive osteopetrosis owing to a novel splicing hypomorphic mutation in the TCIRG1 gene","volume":"29","author":"Sobacchi","year":"2014","journal-title":"J. Bone Miner. Res."},{"key":"10.1016\/j.bone.2023.116897_bb0165","doi-asserted-by":"crossref","first-page":"250","DOI":"10.1007\/s00223-012-9631-4","article-title":"A homozygous contiguous gene deletion in chromosome 16p13.3 leads to autosomal recessive osteopetrosis in a Jordanian patient","volume":"91","author":"Pangrazio","year":"2012","journal-title":"Calcif. Tissue Int."},{"issue":"1","key":"10.1016\/j.bone.2023.116897_bb0170","doi-asserted-by":"crossref","first-page":"E1071","DOI":"10.1002\/humu.21167","article-title":"Molecular and clinical heterogeneity in CLCN7-dependent osteopetrosis: report of 20 novel mutations","volume":"31","author":"Pangrazio","year":"2010","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.bone.2023.116897_bb0175","doi-asserted-by":"crossref","DOI":"10.1016\/j.bone.2022.116639","article-title":"CLCN7, a gene shared by autosomal recessive and autosomal dominant osteopetrosis","volume":"168","author":"Stauber","year":"2023","journal-title":"Bone"},{"key":"10.1016\/j.bone.2023.116897_bb0180","doi-asserted-by":"crossref","DOI":"10.1038\/hgv.2017.36","article-title":"Novel CLCN7 compound heterozygous mutations in intermediate autosomal recessive osteopetrosis","volume":"4","author":"Okamoto","year":"2017","journal-title":"Hum. Genome Var."},{"issue":"2","key":"10.1016\/j.bone.2023.116897_bb0185","doi-asserted-by":"crossref","first-page":"342","DOI":"10.1002\/jbmr.559","article-title":"RANK-dependent autosomal recessive osteopetrosis: characterization of five new cases with novel mutations","volume":"27","author":"Pangrazio","year":"2012","journal-title":"J. Bone Miner. Res."},{"issue":"5","key":"10.1016\/j.bone.2023.116897_bb0190","doi-asserted-by":"crossref","first-page":"1041","DOI":"10.1002\/jbmr.1849","article-title":"SNX10 mutations define a subgroup of human autosomal recessive osteopetrosis with variable clinical severity","volume":"28","author":"Pangrazio","year":"2013","journal-title":"J. Bone Miner. Res."},{"key":"10.1016\/j.bone.2023.116897_bb0195","doi-asserted-by":"crossref","first-page":"116560","DOI":"10.1016\/j.bone.2022.116560","article-title":"Imaging in osteopetrosis","volume":"165","author":"Calder","year":"2022","journal-title":"Bone"},{"issue":"11","key":"10.1016\/j.bone.2023.116897_bb0200","doi-asserted-by":"crossref","first-page":"1965","DOI":"10.3390\/genes13111965","article-title":"Spectrum of skeletal imaging features in osteopetrosis: inheritance pattern and radiological associations","volume":"13","author":"Spinnato","year":"2022","journal-title":"Genes"},{"key":"10.1016\/j.bone.2023.116897_bb0205","doi-asserted-by":"crossref","first-page":"1222","DOI":"10.1002\/pbc.25952","article-title":"Extending the spectrum of radiological findings in patients with severe osteopetrosis and different genetic backgrounds","volume":"63","author":"Simanovsky","year":"2016","journal-title":"Pediatr. Blood Cancer"},{"issue":"4","key":"10.1016\/j.bone.2023.116897_bb0210","doi-asserted-by":"crossref","first-page":"989","DOI":"10.1007\/s11011-015-9660-6","article-title":"Two novel CAII mutations causing carbonic anhydrase II deficiency syndrome in two unrelated Chinese families","volume":"30","author":"Pang","year":"2015","journal-title":"Metab. Brain Dis."},{"key":"10.1016\/j.bone.2023.116897_bb0215","doi-asserted-by":"crossref","DOI":"10.1016\/j.bone.2023.116723","article-title":"Autosomal dominant osteopetrosis","volume":"170","author":"Polgreen","year":"2023","journal-title":"Bone."},{"key":"10.1016\/j.bone.2023.116897_bb0220","doi-asserted-by":"crossref","first-page":"719","DOI":"10.1186\/s12891-022-05687-x","article-title":"Anterior cruciate ligament rupture in a patient with Albers-Schonberg disease","volume":"23","author":"Lu","year":"2022","journal-title":"BMC Musculoskelet. Disord."},{"issue":"9","key":"10.1016\/j.bone.2023.116897_bb0225","doi-asserted-by":"crossref","first-page":"1092","DOI":"10.1038\/ejhg.2017.96","article-title":"Coexisting variants in OSTM1 and MANEAL cause a complex neurodegenerative disorder with NBIA-like brain abnormalities","volume":"25","author":"Herebian","year":"2017","journal-title":"Eur. J. Hum. Genet."},{"key":"10.1016\/j.bone.2023.116897_bb0230","doi-asserted-by":"crossref","first-page":"33887","DOI":"10.1074\/jbc.M114.575787","article-title":"Arf6 guanine nucleotide exchange factor cytohesin-2 binds to CCDC120 and is transported along neurites to mediate neurite growth","volume":"289","author":"Torii","year":"2014","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.bone.2023.116897_bb0235","doi-asserted-by":"crossref","first-page":"184","DOI":"10.1007\/s11914-023-00781-y","article-title":"Proceedings of the post-genome analysis for musculoskeletal biology workshop","volume":"21","author":"Ackert-Bicknell","year":"2023","journal-title":"Curr. Osteoporos. Rep."},{"key":"10.1016\/j.bone.2023.116897_bb0240","doi-asserted-by":"crossref","first-page":"77","DOI":"10.1007\/s11914-018-0421-4","article-title":"Screening gene knockout mice for variation in bone mass: analysisby \u03bcCT and histomorphometry","volume":"16","author":"Rowe","year":"2018","journal-title":"Curr. Osteopor. Rep."},{"key":"10.1016\/j.bone.2023.116897_bb0245","doi-asserted-by":"crossref","first-page":"309","DOI":"10.1111\/cge.13591","article-title":"Pycnodysostosis: natural history and management guidelines from 27 French cases and a literature review","volume":"96","author":"Bizaoui","year":"2019","journal-title":"Clin. Genet."},{"key":"10.1016\/j.bone.2023.116897_bb0250","doi-asserted-by":"crossref","first-page":"2271","DOI":"10.1002\/ajmg.a.62198","article-title":"Resolution of sclerotic lesions of dysosteosclerosis due to biallelic SLC29A3 variant in a Turkish girl","volume":"185","author":"Uluda\u011f-Alkaya","year":"2021","journal-title":"Am. J. Med. Genet. A"}],"container-title":["Bone"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S8756328223002302?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S8756328223002302?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,9,11]],"date-time":"2025-09-11T18:06:42Z","timestamp":1757614002000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S8756328223002302"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,12]]},"references-count":49,"alternative-id":["S8756328223002302"],"URL":"https:\/\/doi.org\/10.1016\/j.bone.2023.116897","relation":{},"ISSN":["8756-3282"],"issn-type":[{"type":"print","value":"8756-3282"}],"subject":[],"published":{"date-parts":[[2023,12]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"The molecular spectrum of Turkish osteopetrosis and related osteoclast disorders with natural history, including a candidate gene, CCDC120","name":"articletitle","label":"Article Title"},{"value":"Bone","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.bone.2023.116897","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":"116897"}}