{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,11,4]],"date-time":"2026-11-04T13:16:57Z","timestamp":1793798217873,"version":"4.6.1"},"reference-count":38,"publisher":"Walter de Gruyter GmbH","issue":"4","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2017,1,1]]},"abstract":"<jats:title>Abstract:<\/jats:title><jats:sec><jats:title>Background:<\/jats:title><jats:p>Hereditary vitamin D-resistant rickets (HVDRR) is an autosomal recessive disorder caused by mutations in the vitamin D receptor (<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods:<\/jats:title><jats:p>We examined four patients with HVDRR from three unrelated Lebanese families. All parents were consanguineous with normal phenotype. We used Sanger sequencing to identify mutations in the coding exons of<\/jats:p><\/jats:sec><jats:sec><jats:title>Results:<\/jats:title><jats:p>Two homozygous mutations (p.R391S and p.H397P), both in exon 9 of the<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions:<\/jats:title><jats:p>This is the first report of<\/jats:p><\/jats:sec>","DOI":"10.1515\/jpem-2016-0338","type":"journal-article","created":{"date-parts":[[2017,3,16]],"date-time":"2017-03-16T15:33:04Z","timestamp":1489678384000},"source":"Crossref","is-referenced-by-count":5,"title":["Hereditary vitamin D-resistant rickets in Lebanese patients: the p.R391S and p.H397P variants have different phenotypes"],"prefix":"10.1515","volume":"30","author":[{"given":"Rabih","family":"Andary","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4017-4908","authenticated-orcid":false,"given":"Abdul-Karim","family":"El-Hage-Sleiman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Theresa","family":"Farhat","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sami","family":"Sanjad","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2157-5279","authenticated-orcid":false,"given":"Georges","family":"Nemer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"374","reference":[{"key":"ref51","doi-asserted-by":"crossref","first-page":"90","DOI":"10.1016\/j.mce.2011.05.045","article-title":"The 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