{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,26]],"date-time":"2026-08-26T14:45:37Z","timestamp":1787755537886,"version":"build-2784847793"},"reference-count":17,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"3","funder":[{"DOI":"10.13039\/501100001411","name":"Indian Council of Medical Research","doi-asserted-by":"crossref","award":["54\/9\/2015-HUM-BMS"],"award-info":[{"award-number":["54\/9\/2015-HUM-BMS"]}],"id":[{"id":"10.13039\/501100001411","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":["lww.com","ovid.com"],"crossmark-restriction":true},"short-container-title":[],"abstract":"<jats:sec>\n                    <jats:title>Case:<\/jats:title>\n                    <jats:p>\n                      We report a 15-year-old adolescent boy being followed up for 6 years with osteogenesis imperfecta (OI). Genetic testing of this child revealed a novel missense variant c.925C&gt;T p.Arg309Cys in the\n                      <jats:italic toggle=\"yes\">CREB3L1<\/jats:italic>\n                      gene. Treatment with regular pamidronate therapy showed increased bone mineral density and a reduced fracture rate. His lower limb rush rodding improved his mobility. His withdrawal from bisphosphonate therapy worsened his mobility status but started improving after he restarted treatment, suggesting a response to pamidronate therapy.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion:<\/jats:title>\n                    <jats:p>\n                      We report a novel biallelic missense variant c.925C&gt;T, p.Arg309Cys, in the\n                      <jats:italic toggle=\"yes\">CREB3L1<\/jats:italic>\n                      gene causing OI, which responded to bisphosphonate therapy and corrective surgery.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.2106\/jbjs.cc.24.00093","type":"journal-article","created":{"date-parts":[[2024,7,26]],"date-time":"2024-07-26T14:30:56Z","timestamp":1722004256000},"update-policy":"https:\/\/doi.org\/10.1097\/lww.0000000000001000","source":"Crossref","is-referenced-by-count":0,"title":["Pamidronate Response in a Novel Biallelic CREB3L1 Gene Mutation\u2013Associated Osteogenesis Imperfecta"],"prefix":"10.2106","volume":"14","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-8829-5445","authenticated-orcid":false,"given":"Agnes","family":"Selina","sequence":"first","affiliation":[{"name":"Department of Paediatric Orthopaedic, Christian Medical College, Vellore, Tamil Nadu, India"},{"name":"Centre for Stem Cell Research, Christian Medical College, Vellore, Tamil Nadu, India"},{"name":"Manipal Academy of Higher Education, Manipal, Karnataka, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1895-6997","authenticated-orcid":false,"given":"Madhavi","family":"Kandagaddala","sequence":"additional","affiliation":[{"name":"Department of Radiology, Christian Medical College,Vellore, Tamil Nadu, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4494-222X","authenticated-orcid":false,"given":"Vrisha","family":"Madhuri","sequence":"additional","affiliation":[{"name":"Department of Paediatric Orthopaedic, Christian Medical College, Vellore, Tamil Nadu, India"},{"name":"Centre for Stem Cell Research, Christian Medical College, Vellore, Tamil Nadu, India"},{"name":"Amara Hospital, Tirupati, Andhra Pradesh, India"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"276","published-online":{"date-parts":[[2024,7]]},"reference":[{"issue":"10028","key":"bib1-20240731","doi-asserted-by":"crossref","first-page":"1657","DOI":"10.1016\/S0140-6736(15)00728-X","article-title":"Osteogenesis imperfecta","volume":"387","author":"Forlino","year":"2016","journal-title":"Lancet (London, England)."},{"issue":"1","key":"bib2-20240731","doi-asserted-by":"crossref","first-page":"15","DOI":"10.1002\/mgg3.331","article-title":"Genetic 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