{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,30]],"date-time":"2026-04-30T16:13:00Z","timestamp":1777565580656,"version":"3.51.4"},"reference-count":13,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2025,8,5]],"date-time":"2025-08-05T00:00:00Z","timestamp":1754352000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"},{"start":{"date-parts":[[2025,8,5]],"date-time":"2025-08-05T00:00:00Z","timestamp":1754352000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Calcif Tissue Int"],"DOI":"10.1007\/s00223-025-01418-1","type":"journal-article","created":{"date-parts":[[2025,8,5]],"date-time":"2025-08-05T11:18:35Z","timestamp":1754392715000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Expanding the Genotypic and Phenotypic Spectrum of P3H1 Related Osteogenesis Imperfecta"],"prefix":"10.1007","volume":"116","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-1416-7920","authenticated-orcid":false,"given":"Erdem","family":"K\u0131nd\u0131\u015f","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Enise","family":"Avc\u0131 Durmu\u015fali\u011flu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elif","family":"Eviz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2025,8,5]]},"reference":[{"key":"1418_CR1","doi-asserted-by":"publisher","first-page":"27","DOI":"10.1016\/j.metabol.2017.06.001","volume":"80","author":"S Tournis","year":"2018","unstructured":"Tournis S, Dede AD (2018) Osteogenesis imperfecta - a clinical update. Metabolism 80:27\u201337. https:\/\/doi.org\/10.1016\/j.metabol.2017.06.001","journal-title":"Metabolism"},{"issue":"4","key":"1418_CR2","doi-asserted-by":"publisher","first-page":"233","DOI":"10.1136\/jmg.2008.062729","volume":"46","author":"A Willaert","year":"2009","unstructured":"Willaert A, Malfait F, Symoens S, Gevaert K, Kayserili H, Megarbane A et al (2009) Recessive osteogenesis imperfecta caused by LEPRE1 mutations: clinical documentation and identification of the splice form responsible for prolyl 3-hydroxylation. J Med Genet 46(4):233\u2013241. https:\/\/doi.org\/10.1136\/jmg.2008.062729","journal-title":"J Med Genet"},{"issue":"3","key":"1418_CR3","doi-asserted-by":"publisher","first-page":"359","DOI":"10.1038\/ng1968","volume":"39","author":"WA Cabral","year":"2007","unstructured":"Cabral WA, Chang W, Barnes AM, Weis M, Scott MA, Leikin S et al (2007) Prolyl 3-hydroxylase 1 deficiency causes a recessive metabolic bone disorder resembling lethal\/severe osteogenesis imperfecta. Nat Genet 39(3):359\u2013365. https:\/\/doi.org\/10.1038\/ng1968","journal-title":"Nat Genet"},{"issue":"10028","key":"1418_CR4","doi-asserted-by":"publisher","first-page":"1657","DOI":"10.1016\/S0140-6736(15)00728-X","volume":"387","author":"A Forlino","year":"2016","unstructured":"Forlino A, Marini JC (2016) Osteogenesis imperfecta. Lancet (London, England) 387(10028):1657\u20131671. https:\/\/doi.org\/10.1016\/S0140-6736(15)00728-X","journal-title":"Lancet (London, England)"},{"key":"1418_CR5","doi-asserted-by":"publisher","first-page":"132","DOI":"10.1016\/j.bonr.2018.09.002","volume":"9","author":"A Santana","year":"2018","unstructured":"Santana A, Franzone JM, McGreal CM, Kruse RW, Bober MB (2018) A moderate form of osteogenesis imperfecta caused by compound heterozygous LEPRE1 mutations. Bone Rep 9:132\u2013135. https:\/\/doi.org\/10.1016\/j.bonr.2018.09.002","journal-title":"Bone Rep"},{"key":"1418_CR6","doi-asserted-by":"publisher","DOI":"10.3390\/genes14020322","author":"PN Kantaputra","year":"2023","unstructured":"Kantaputra PN, Angkurawaranon S, Intachai W, Ngamphiw C, Olsen B, Tongsima S et al (2023) A founder intronic variant in P3H1 likely results in aberrant splicing and protein truncation in patients of Karen descent with osteogenesis imperfecta type VIII. Genes. https:\/\/doi.org\/10.3390\/genes14020322","journal-title":"Genes"},{"key":"1418_CR7","doi-asserted-by":"publisher","DOI":"10.3390\/genes13030407","author":"L Zhytnik","year":"2022","unstructured":"Zhytnik L, Duy BH, Eekhoff M, Wisse L, Pals G, Reimann E et al (2022) Phenotypic variation in Vietnamese osteogenesis imperfecta patients sharing a recessive P3H1 pathogenic variant. Genes. https:\/\/doi.org\/10.3390\/genes13030407","journal-title":"Genes"},{"key":"1418_CR8","doi-asserted-by":"publisher","DOI":"10.1016\/j.bone.2021.116293","volume":"155","author":"B T\u00fcys\u00fcz","year":"2022","unstructured":"T\u00fcys\u00fcz B, Elkanova L, Uluda\u011f Alkaya D, G\u00fcle\u00e7 \u00c7, Toksoy G, G\u00fcne\u015f N et al (2022) Osteogenesis imperfecta in 140 Turkish families: Molecular spectrum and comparison of long-term clinical outcome of those with COL1A1\/A2 and biallelic variants. Bone 155:116293. https:\/\/doi.org\/10.1016\/j.bone.2021.116293","journal-title":"Bone"},{"issue":"9","key":"1418_CR9","doi-asserted-by":"publisher","first-page":"754","DOI":"10.1016\/j.jmoldx.2024.05.014","volume":"26","author":"L Aliyeva","year":"2024","unstructured":"Aliyeva L, Ongen YD, Eren E, Sarisozen MB, Alemdar A, Temel SG et al (2024) Genotype and phenotype correlation of patients with osteogenesis imperfecta. J Mol Diagn: JMD 26(9):754\u2013769. https:\/\/doi.org\/10.1016\/j.jmoldx.2024.05.014","journal-title":"J Mol Diagn: JMD"},{"issue":"4","key":"1418_CR10","doi-asserted-by":"publisher","first-page":"431","DOI":"10.4274\/jcrpe.galenos.2024.2022-12-8","volume":"16","author":"S \u00d6zen","year":"2024","unstructured":"\u00d6zen S, G\u00f6k\u015fen D, Evin F, I\u015f\u0131k E, Onay H, Akg\u00fcn B et al (2024) Molecular genetic diagnosis with targeted next generation sequencing in a cohort of turkish osteogenesis imperfecta patients and their genotype-phenotype correlation. J Clin Res Pediatr Endocrinol 16(4):431\u2013442. https:\/\/doi.org\/10.4274\/jcrpe.galenos.2024.2022-12-8","journal-title":"J Clin Res Pediatr Endocrinol"},{"issue":"4","key":"1418_CR11","doi-asserted-by":"publisher","first-page":"349","DOI":"10.1080\/03008207.2021.1932853","volume":"63","author":"\u0130M Erba\u015f","year":"2022","unstructured":"Erba\u015f \u0130M, Deniz \u0130G, Zehra MK, Altu\u011f K, Tolga \u00dc, Ayhan A et al (2022) Clinical, genetic characteristics and treatment outcomes of children and adolescents with osteogenesis imperfecta: a two-center experience. Connect Tissue Res 63(4):349\u2013358. https:\/\/doi.org\/10.1080\/03008207.2021.1932853","journal-title":"Connect Tissue Res"},{"issue":"4","key":"1418_CR12","doi-asserted-by":"publisher","first-page":"194","DOI":"10.1002\/mgg3.21","volume":"1","author":"MG Pepin","year":"2013","unstructured":"Pepin MG, Schwarze U, Singh V, Romana M, Jones-Lecointe A, Byers PH (2013) Allelic background of LEPRE1 mutations that cause recessive forms of osteogenesis imperfecta in different populations. Mol Genet Genomic Med 1(4):194\u2013205. https:\/\/doi.org\/10.1002\/mgg3.21","journal-title":"Mol Genet Genomic Med"},{"issue":"5","key":"1418_CR13","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0036809","volume":"7","author":"M Takagi","year":"2012","unstructured":"Takagi M, Ishii T, Barnes AM, Weis M, Amano N, Tanaka M et al (2012) A novel mutation in LEPRE1 that eliminates only the KDEL ER- retrieval sequence causes non-lethal osteogenesis imperfecta. PLoS ONE 7(5):e36809. https:\/\/doi.org\/10.1371\/journal.pone.0036809","journal-title":"PLoS ONE"}],"container-title":["Calcified Tissue International"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s00223-025-01418-1.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s00223-025-01418-1","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s00223-025-01418-1.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,12,26]],"date-time":"2025-12-26T13:21:28Z","timestamp":1766755288000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s00223-025-01418-1"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,8,5]]},"references-count":13,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2025,12]]}},"alternative-id":["1418"],"URL":"https:\/\/doi.org\/10.1007\/s00223-025-01418-1","relation":{},"ISSN":["1432-0827"],"issn-type":[{"value":"1432-0827","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,8,5]]},"assertion":[{"value":"2 June 2025","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"25 July 2025","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"5 August 2025","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"Erdem K\u0131nd\u0131\u015f, Enise Avc\u0131 Durmu\u015fali\u011flu and\u00a0Elif Eviz\u00a0declare no conflict of interest.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of Interest"}},{"value":"Informed consent was obtained from all individual participants or their legal guardians included in the study. No animal experiments were conducted in this study.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Human and Animal Rights and Informed Consent"}}],"article-number":"104"}}