{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,27]],"date-time":"2026-03-27T21:09:22Z","timestamp":1774645762486,"version":"3.50.1"},"reference-count":4,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2014,6,11]],"date-time":"2014-06-11T00:00:00Z","timestamp":1402444800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Pediatric Dermatology"],"published-print":{"date-parts":[[2014,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Hereditary vitamin D\u2013resistant rickets (<jats:styled-content style=\"fixed-case\">HVDRR<\/jats:styled-content>) is a rare autosomal recessive disorder caused by mutations in the vitamin D receptor (<jats:italic><jats:styled-content style=\"fixed-case\">VDR<\/jats:styled-content><\/jats:italic>) gene. We report the case of an infant presenting with alopecia, growth failure, and gross motor developmental delay. Serum biochemistry and skeletal survey were consistent with rickets. After a poor response to standard treatment, genetic testing confirmed a c.147\u20132A&gt;T novel mutation in the <jats:italic><jats:styled-content style=\"fixed-case\">VDR<\/jats:styled-content><\/jats:italic> gene consistent with <jats:styled-content style=\"fixed-case\">HVDRR<\/jats:styled-content>. It is important for dermatologists and pediatricians to recognize alopecia as a presenting sign of <jats:styled-content style=\"fixed-case\">HVDRR<\/jats:styled-content> because appropriate treatment leads to better growth and development of the child.<\/jats:p>","DOI":"10.1111\/pde.12327","type":"journal-article","created":{"date-parts":[[2014,6,11]],"date-time":"2014-06-11T07:57:18Z","timestamp":1402473438000},"page":"519-520","source":"Crossref","is-referenced-by-count":11,"title":["Hereditary Vitamin D\u2013Resistant Rickets Presenting as Alopecia"],"prefix":"10.1111","volume":"31","author":[{"given":"Genevieve","family":"Casey","sequence":"first","affiliation":[{"name":"Department of Dermatology Oxford University Hospitals Oxford UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tess","family":"McPherson","sequence":"additional","affiliation":[{"name":"Department of Dermatology Oxford University Hospitals Oxford UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Usha","family":"Kini","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Oxford University Hospitals Oxford UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fiona","family":"Ryan","sequence":"additional","affiliation":[{"name":"Department of Paediatric Endocrinology Oxford University Hospitals Oxford UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Saleem M.","family":"Taibjee","sequence":"additional","affiliation":[{"name":"Department of Dermatology Princess of Wales Hospital Bridgend South Wales UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Celia","family":"Moss","sequence":"additional","affiliation":[{"name":"Department of Dermatology Birmingham Children's Hospital National Health Service Foundation Trust Birmingham UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Susan","family":"Burge","sequence":"additional","affiliation":[{"name":"Department of Dermatology Oxford University Hospitals Oxford UK"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2014,6,11]]},"reference":[{"key":"e_1_2_3_2_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM197805042981804"},{"key":"e_1_2_3_3_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.2849209"},{"key":"e_1_2_3_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ecl.2010.02.004"},{"key":"e_1_2_3_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.mce.2011.05.045"}],"container-title":["Pediatric Dermatology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fpde.12327","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/pde.12327","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,23]],"date-time":"2023-09-23T13:57:38Z","timestamp":1695477458000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/pde.12327"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,6,11]]},"references-count":4,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2014,7]]}},"alternative-id":["10.1111\/pde.12327"],"URL":"https:\/\/doi.org\/10.1111\/pde.12327","archive":["Portico"],"relation":{},"ISSN":["0736-8046","1525-1470"],"issn-type":[{"value":"0736-8046","type":"print"},{"value":"1525-1470","type":"electronic"}],"subject":[],"published":{"date-parts":[[2014,6,11]]}}}