{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,4]],"date-time":"2025-07-04T04:03:42Z","timestamp":1751601822044,"version":"3.41.0"},"reference-count":12,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2024,12,23]],"date-time":"2024-12-23T00:00:00Z","timestamp":1734912000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Pediatric Dermatology"],"published-print":{"date-parts":[[2025,5]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:p>Vitamin D\u2010dependent rickets type 2A (VDDR2A) is a rare cause of infantile\u2010onset alopecia, characterized by severe hypotrichosis, small cutaneous cysts, early\u2010onset treatment\u2010resistant rickets, and hypocalcemia. Alopecia, often starting a few weeks to months after birth, may be the presenting feature. We present three cases of VDDR2A with genetic variants in the vitamin D receptor (<jats:italic>VDR<\/jats:italic>) gene, their clinical features and biochemical parameters. This case series emphasizes that early identification of this rare cause of alopecia and treating the metabolic abnormalities can improve bone health.<\/jats:p>","DOI":"10.1111\/pde.15853","type":"journal-article","created":{"date-parts":[[2024,12,24]],"date-time":"2024-12-24T06:07:12Z","timestamp":1735020432000},"page":"615-619","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Vitamin D Dependent Rickets <scp>2A<\/scp> With Alopecia: Three\u00a0Cases With Novel Genetic Variants"],"prefix":"10.1111","volume":"42","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-3078-1146","authenticated-orcid":false,"given":"Minu Jose","family":"Chiramel","sequence":"first","affiliation":[{"name":"Department of Dermatology, Venereology and Leprosy Christian Medical College Vellore  Vellore Tamil Nadu India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5890-5919","authenticated-orcid":false,"given":"Anju","family":"George","sequence":"additional","affiliation":[{"name":"Department of Dermatology, Venereology and Leprosy Christian Medical College Vellore  Vellore Tamil Nadu India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9524-577X","authenticated-orcid":false,"given":"Dharshini","family":"Sathishkumar","sequence":"additional","affiliation":[{"name":"Department of Dermatology, Venereology and Leprosy Christian Medical College Vellore  Vellore Tamil Nadu India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anna","family":"Simon","sequence":"additional","affiliation":[{"name":"Paediatric Endocrinology Division, Department of Paediatrics Christian Medical College Vellore  Vellore Tamil Nadu India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sarah","family":"Mathai","sequence":"additional","affiliation":[{"name":"Paediatric Endocrinology Division, Department of Paediatrics Christian Medical College Vellore  Vellore Tamil Nadu India"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2024,12,23]]},"reference":[{"issue":"3","key":"e_1_2_7_2_1","first-page":"529","article-title":"Rickets Resistant to Vitamin D Therapy","volume":"54","author":"Albright F.","year":"1937","journal-title":"American Journal of Diseases of Children"},{"key":"e_1_2_7_3_1","first-page":"452","article-title":"An Unusual Form of Primary Vitamin D\u2010Resistant Rickets With Hypocalcemia and Autosomal\u2010Dominant Hereditary Transmission: Hereditary Pseudo\u2010Deficiency Rickets","volume":"16","author":"Prader A.","year":"1961","journal-title":"Helvetica Paediatrica Acta"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.3389\/fped.2020.00315"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1210\/endo.141.6.7515"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/bonekey.2014.5"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00223-023-01061-8"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1001\/archderm.141.3.343"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.4103\/jfmpc.jfmpc_78_18"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.3390\/biology12070916"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bonr.2015.05.001"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/jbmr.484"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1515\/jpem-2019-0258"}],"container-title":["Pediatric Dermatology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/pde.15853","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,7,3]],"date-time":"2025-07-03T06:45:31Z","timestamp":1751525131000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/pde.15853"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,12,23]]},"references-count":12,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2025,5]]}},"alternative-id":["10.1111\/pde.15853"],"URL":"https:\/\/doi.org\/10.1111\/pde.15853","archive":["Portico"],"relation":{},"ISSN":["0736-8046","1525-1470"],"issn-type":[{"type":"print","value":"0736-8046"},{"type":"electronic","value":"1525-1470"}],"subject":[],"published":{"date-parts":[[2024,12,23]]},"assertion":[{"value":"2024-02-06","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-12-08","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-12-23","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}