{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,26]],"date-time":"2026-08-26T15:21:32Z","timestamp":1787757692428,"version":"build-2784847793"},"reference-count":9,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"6","content-domain":{"domain":["lww.com","ovid.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2021,11]]},"DOI":"10.4103\/0028-3886.333502","type":"journal-article","created":{"date-parts":[[2021,12,28]],"date-time":"2021-12-28T01:47:50Z","timestamp":1640656070000},"page":"1861-1862","update-policy":"https:\/\/doi.org\/10.1097\/lww.0000000000001000","source":"Crossref","is-referenced-by-count":0,"title":["CEDNIK Syndrome"],"prefix":"10.4103","volume":"69","author":[{"given":"Vandana","family":"Bansal","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vasundhara P.","family":"Tamhankar","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shilpa M.","family":"Mithbawkar","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Parag M.","family":"Tamhankar","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"276","reference":[{"key":"R1-79-20240907","doi-asserted-by":"crossref","first-page":"395","DOI":"10.1517\/21678707.2016.1154453","article-title":"Genetics and prospective therapeutic targets for Sj\u00f6gren-Larsson Syndrome","volume":"4","author":"Rizzo","year":"2016","journal-title":"Expert Opin Orphan Drugs"},{"key":"R2-79-20240907","doi-asserted-by":"crossref","first-page":"332","DOI":"10.4103\/0022-3859.138826","article-title":"Chanarin-Dorfman syndrome: Clinical report and novel mutation in ABHD5 gene","volume":"60","author":"Tamhankar","year":"2014","journal-title":"J Postgrad Med"},{"key":"R3-79-20240907","doi-asserted-by":"crossref","first-page":"435","DOI":"10.1016\/S0092-8674(03)00347-7","article-title":"Multiple sulfatase deficiency is caused by mutations in the gene encoding the human C (alpha)-formylglycine generating enzyme","volume":"113","author":"Dierks","year":"2003","journal-title":"Cell"},{"key":"R4-79-20240907","doi-asserted-by":"crossref","first-page":"242","DOI":"10.1086\/432556","article-title":"A mutation in SNAP29, coding for a SNARE protein involved in intracellular trafficking, causes a novel neurocutaneous syndrome characterized by cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma","volume":"77","author":"Sprecher","year":"2005","journal-title":"Am J Hum Genet"},{"key":"R5-79-20240907","first-page":"610","article-title":"CEDNIK syndrome results from loss-of-function mutations in SNAP29","volume":"164","author":"Fuchs-Telem","year":"2011","journal-title":"Br J Dermatol"},{"key":"R6-79-20240907","doi-asserted-by":"crossref","first-page":"80","DOI":"10.1136\/jmedgenet-2012-101320","article-title":"Hemizygous mutations in SNAP29 unmask autosomal recessive conditions and contribute to atypical findings in patients with 22q11.2DS","volume":"50","author":"McDonald-McGinn","year":"2013","journal-title":"J Med Genet"},{"key":"R7-79-20240907","doi-asserted-by":"crossref","first-page":"821","DOI":"10.1111\/1346-8138.12917","article-title":"New Arab family with cerebral dysgenesis, neuropathy, ichthyosis and keratoderma syndrome suggests a possible founder effect for the c. 223delG mutation","volume":"42","author":"Ben-Salem","year":"2015","journal-title":"J Dermatol"},{"key":"R8-79-20240907","doi-asserted-by":"crossref","first-page":"2329048X17733214","DOI":"10.1177\/2329048X17733214","article-title":"CEDNIK: Phenotypic and molecular characterization of an additional patient and review of the Literature","volume":"4","author":"Hsu","year":"2017","journal-title":"Child Neurol Open"},{"key":"R9-79-20240907","doi-asserted-by":"crossref","first-page":"372","DOI":"10.1111\/pde.13761","article-title":"CEDNIK syndrome in an Indian patient with a novel mutation of the SNAP29 gene","volume":"36","author":"Poojary","year":"2019","journal-title":"Pediatr Dermatol"}],"container-title":["Neurology India"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.ovid.com\/10.4103\/0028-3886.333502","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,8,26]],"date-time":"2026-08-26T14:50:29Z","timestamp":1787755829000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.ovid.com\/10.4103\/0028-3886.333502"}},"subtitle":["Report of an Ultra-Rare Case from India"],"short-title":[],"issued":{"date-parts":[[2021,11]]},"references-count":9,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2021]]}},"URL":"https:\/\/doi.org\/10.4103\/0028-3886.333502","relation":{},"ISSN":["0028-3886"],"issn-type":[{"value":"0028-3886","type":"print"}],"subject":[],"published":{"date-parts":[[2021,11]]}}}