{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,3]],"date-time":"2026-02-03T20:22:56Z","timestamp":1770150176792,"version":"3.49.0"},"reference-count":34,"publisher":"Oxford University Press (OUP)","issue":"4","license":[{"start":{"date-parts":[[2026,2,3]],"date-time":"2026-02-03T00:00:00Z","timestamp":1770076800000},"content-version":"vor","delay-in-days":948,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"},{"start":{"date-parts":[[2023,6,9]],"date-time":"2023-06-09T00:00:00Z","timestamp":1686268800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100004063","name":"Knut och Alice Wallenbergs Stiftelse","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100004063","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Sveland's Research Foundation for Animal Health and Quality of Life"},{"DOI":"10.13039\/501100004359","name":"Swedish Research Council","doi-asserted-by":"publisher","award":["2018-05973"],"award-info":[{"award-number":["2018-05973"]}],"id":[{"id":"10.13039\/501100004359","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004063","name":"Knut och Alice Wallenbergs Stiftelse","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100004063","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004359","name":"Vetenskapsr\u00e5det","doi-asserted-by":"publisher","award":["2018\u201005973"],"award-info":[{"award-number":["2018\u201005973"]}],"id":[{"id":"10.13039\/501100004359","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2023,7,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>Rickets is a disorder of bone development and can be the result of either dietary or genetic causes. Here, related pugs from 2 litters were included. Three pugs had clinical signs including, lameness, bone deformities, and dyspnea. One other pug was found dead. Radiographs of 2 affected pugs, 5 and 6\u2009months old, showed generalized widening, and irregular margination of the physes of both the appendicular and the axial skeleton with generalized decrease in bone opacity and bulbous swelling of the costochondral junctions. Two pugs had low serum calcium and 1,25 (OH)2D3 concentrations. Test results further indicated secondary hyperparathyroidism with adequate concentrations of 25-hydroxyvitamin D. Necropsy revealed tongue-like projections of cartilage extending into the metaphysis consistent with rickets, loss of metaphyseal mineralization and lung pathology. Vitamin D-dependent rickets was diagnosed. A truncating mutation in the 1\u03b1-hydroxylase gene (CYP27B1) was identified by genome sequence analysis of the pugs with VDDR type 1A. Vitamin D-dependent rickets type 1A can occur in young pugs, and if left untreated is a life-threatening condition. Early medical intervention can reverse clinical signs and should be instituted as soon as possible.<\/jats:p>","DOI":"10.1111\/jvim.16791","type":"journal-article","created":{"date-parts":[[2023,6,9]],"date-time":"2023-06-09T03:48:14Z","timestamp":1686282494000},"page":"1507-1513","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Mutations in the\n                    <i>CYP27B1<\/i>\n                    gene cause vitamin D dependent rickets in pugs"],"prefix":"10.1093","volume":"37","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-7698-550X","authenticated-orcid":false,"given":"Cecilia","family":"Rohdin","sequence":"first","affiliation":[{"name":"Swedish University of Agricultural Science Department of Clinical Sciences, , Uppsala,","place":["Sweden"]},{"name":"Anicura Albano Small Animal Hospital , Danderyd,","place":["Sweden"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chao","family":"Wang","sequence":"additional","affiliation":[{"name":"Science for Life Laboratory Department of Medical Biochemistry and Microbiology, , Uppsala,","place":["Sweden"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gustaf","family":"Brander","sequence":"additional","affiliation":[{"name":"Broad Institute of MIT and Harvard , Cambridge, Massachusetts,","place":["USA"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Veronica","family":"Rondahl","sequence":"additional","affiliation":[{"name":"Biovet , Sollentuna,","place":["Sweden"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"\u00c5sa","family":"Karlsson","sequence":"additional","affiliation":[{"name":"Science for Life Laboratory Department of Medical Biochemistry and Microbiology, , Uppsala,","place":["Sweden"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lisa","family":"Friling","sequence":"additional","affiliation":[{"name":"AniCura Djursjukhuset Albano Ringgold Standard Institution , Danderyd,","place":["Sweden"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anthony","family":"Fischetti","sequence":"additional","affiliation":[{"name":"Animal Medical Center Department of Diagnostic Imaging, , New York, New York,","place":["USA"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jennifer","family":"Meadows","sequence":"additional","affiliation":[{"name":"Science for Life Laboratory Department of Medical Biochemistry and Microbiology, , Uppsala,","place":["Sweden"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3402-023X","authenticated-orcid":false,"given":"Jens","family":"H\u00e4ggstr\u00f6m","sequence":"additional","affiliation":[{"name":"Swedish University of Agricultural Science Department of Clinical Sciences, , Uppsala,","place":["Sweden"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Karin Hultin","family":"J\u00e4derlund","sequence":"additional","affiliation":[{"name":"Norges Miljo- og Biovitenskapelige Universitet Fakultet for Veterinarmedisin og Biovitenskap Department of Companion Animal Clinical Sciences, , Oslo,","place":["Norway"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6617-0454","authenticated-orcid":false,"given":"Ingrid","family":"Ljungvall","sequence":"additional","affiliation":[{"name":"Swedish University of Agricultural Science Department of Clinical Sciences, , Uppsala,","place":["Sweden"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kerstin","family":"Lindblad-Toh","sequence":"additional","affiliation":[{"name":"Broad Institute of MIT and Harvard , Cambridge, Massachusetts,","place":["USA"]}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"286","published-online":{"date-parts":[[2023,7,1]]},"reference":[{"key":"2026020302583151500_jvim16791-bib-0001","doi-asserted-by":"crossref","first-page":"313","DOI":"10.1136\/vr.98.16.313","article-title":"Nutrition and bone disease in the dog and cat","volume":"98","author":"Bennett","year":"1976","journal-title":"Vet Rec"},{"key":"2026020302583151500_jvim16791-bib-0002","doi-asserted-by":"crossref","first-page":"389","DOI":"10.1177\/0300985810375240","article-title":"Vitamin D metabolism and rickets in domestic animals: a review","volume":"48","author":"Dittmer","year":"2010","journal-title":"Vet Pathol"},{"key":"2026020302583151500_jvim16791-bib-0003","doi-asserted-by":"crossref","first-page":"1041","DOI":"10.2460\/javma.234.8.1041","article-title":"Diffuse osteopenia and myelopathy in a puppy fed a diet composed of an organic premix and raw ground 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