{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,26]],"date-time":"2026-10-26T21:12:20Z","timestamp":1793049140227,"version":"4.5.0"},"reference-count":14,"publisher":"S. Karger AG","issue":"6","license":[{"start":{"date-parts":[[2006,1,1]],"date-time":"2006-01-01T00:00:00Z","timestamp":1136073600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2006,1,1]],"date-time":"2006-01-01T00:00:00Z","timestamp":1136073600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Horm Res Paediatr"],"published-print":{"date-parts":[[2006]]},"abstract":"<jats:p>Mutations in vitamin D receptor (&lt;i&gt;VDR&lt;\/i&gt;) cause hereditary vitamin D resistant rickets (HVDRR). We reported a Thai girl with HVDRR, presenting with an early onset of rickets and partial alopecia. She was a product of a consanguineous couple. Mutation analysis showed that she was homozygous for a novel splice site mutation of the &lt;i&gt;VDR&lt;\/i&gt; gene, 462 + 1 G \u2192 C, resulting in incorporation of the whole 254 bp of the intron 4 into its mRNA. The mutated protein is expected to contain no ligand-binding domain. The fact that she did not develop total alopecia despite of no VDR ligand-binding domain supports that VDR function on hair cycling is ligand independent.<\/jats:p>","DOI":"10.1159\/000095546","type":"journal-article","created":{"date-parts":[[2006,9,1]],"date-time":"2006-09-01T11:41:59Z","timestamp":1157110919000},"page":"273-276","source":"Crossref","is-referenced-by-count":11,"title":["A Girl with a Novel Splice Site Mutation in &lt;i&gt;VDR&lt;\/i&gt; Supports the Role of a Ligand-Independent VDR Function on Hair Cycling"],"prefix":"10.1159","volume":"66","author":[{"given":"Paravee","family":"Katavetin","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pisut","family":"Katavetin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Suttipong","family":"Wacharasindhu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vorasuk","family":"Shotelersuk","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"127","published-online":{"date-parts":[[2006,11,30]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1016%2FS0002-9343%2898%2900419-7"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1210%2Fer.20.2.156"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1159%2F000066442"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1001%2Farchderm.139.12.1644"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1172%2FJCI11676"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1210%2Fme.2004-0415"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1006%2Fmgme.2001.3181"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1210%2Fme.2002-0152"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1016%2FS1096-7192%2802%2900173-7"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1210%2Fen.2004-0080"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1046%2Fj.1365-2265.1996.00774.x"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1210%2Fjc.82.9.3156"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.1172%2FJCI114944"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.1073%2Fpnas.86.24.9783"}],"container-title":["Hormone Research in Paediatrics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/95546","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/95546","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,24]],"date-time":"2025-04-24T02:42:38Z","timestamp":1745462558000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000095546"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2006]]},"references-count":14,"journal-issue":{"issue":"6","published-online":{"date-parts":[[2006,11,1]]}},"URL":"https:\/\/doi.org\/10.1159\/000095546","archive":["Portico"],"relation":{},"ISSN":["1663-2818","1663-2826"],"issn-type":[{"value":"1663-2818","type":"print"},{"value":"1663-2826","type":"electronic"}],"subject":[],"published":{"date-parts":[[2006]]}}}