{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,26]],"date-time":"2026-08-26T19:32:13Z","timestamp":1787772733009,"version":"build-2784847793"},"reference-count":8,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"2","content-domain":{"domain":["lww.com","ovid.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2022,3]]},"abstract":"<jats:sec>\n                    <jats:title\/>\n                    <jats:p>DOORS syndrome is an autosomal recessive genetic neurometabolic disorder. It occurs equally in men and women. Major causes include TBC1D 24 mutations and genetic factors. Here, we discuss a 23-year-old male patient who applied to our clinic with anonychia of the toes and was diagnosed with DOORS syndrome with other accompanying clinical symptoms.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.4103\/ijd.ijd_676_21","type":"journal-article","created":{"date-parts":[[2024,8,29]],"date-time":"2024-08-29T17:19:03Z","timestamp":1724951943000},"page":"161-163","update-policy":"https:\/\/doi.org\/10.1097\/lww.0000000000001000","source":"Crossref","is-referenced-by-count":0,"title":["Doors Syndrome"],"prefix":"10.4103","volume":"67","author":[{"given":"Dua","family":"Cebeci","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Didem","family":"R\u0131fk\u0131","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"276","reference":[{"key":"R1-13-20240829","doi-asserted-by":"crossref","first-page":"277","DOI":"10.5530\/ijopp.13.3.46","article-title":"A case report on DOORS syndrome","volume":"13","author":"Alexander","year":"2020","journal-title":"Indian J Pharm Practice"},{"key":"R2-13-20240829","doi-asserted-by":"crossref","first-page":"479","DOI":"10.1007\/s13312-011-0068-z","article-title":"DOOR syndrome","volume":"48","author":"Girish","year":"2011","journal-title":"Indian Pediatr"},{"key":"R3-13-20240829","doi-asserted-by":"crossref","first-page":"44","DOI":"10.1016\/S1474-4422(13)70265-5","article-title":"The genetic basis of DOORS syndrome: An exome-sequencing study","volume":"13","author":"Campeau","year":"2014","journal-title":"Lancet Neurol"},{"key":"R4-13-20240829","doi-asserted-by":"crossref","first-page":"507","DOI":"10.1001\/archotol.1961.00740030518004","article-title":"Congenital deafness associated with onychodystrophy","volume":"74","author":"Feinmesser","year":"1961","journal-title":"Arch Otolaryng"},{"key":"R5-13-20240829","doi-asserted-by":"crossref","first-page":"404","DOI":"10.1684\/ejd.2020.3850","article-title":"Deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures (DOORS) syndrome: A new case report from Indonesia and review of the literature","volume":"30","author":"Danarti","year":"2020","journal-title":"Eur J Dermatol"},{"key":"R6-13-20240829","doi-asserted-by":"crossref","first-page":"133","DOI":"10.1097\/00019605-200204000-00012","article-title":"DOOR syndrome: Report of three additional cases","volume":"11","author":"Felix","year":"2002","journal-title":"Clin Dysmorph"},{"key":"R7-13-20240829","first-page":"SD01","article-title":"Absence of nails, deaf-mutism, seizures and intellectual disability: A case report","volume":"9","author":"Nair","year":"2015","journal-title":"J Clin Diagn Res"},{"key":"R8-13-20240829","doi-asserted-by":"crossref","first-page":"2821","DOI":"10.1002\/ajmg.a.32054","article-title":"DOOR syndrome: Clinical report, literature review and discussion of natural history","volume":"143A","author":"James","year":"2007","journal-title":"Am J Med Genet"}],"container-title":["Indian Journal of Dermatology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.ovid.com\/10.4103\/ijd.ijd_676_21","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,8,26]],"date-time":"2026-08-26T19:10:51Z","timestamp":1787771451000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.ovid.com\/10.4103\/ijd.ijd_676_21"}},"subtitle":["Case Report"],"short-title":[],"issued":{"date-parts":[[2022,3]]},"references-count":8,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2022]]}},"URL":"https:\/\/doi.org\/10.4103\/ijd.ijd_676_21","relation":{},"ISSN":["0019-5154"],"issn-type":[{"value":"0019-5154","type":"print"}],"subject":[],"published":{"date-parts":[[2022,3]]}}}