{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T13:03:52Z","timestamp":1790687032936,"version":"4.1.0"},"reference-count":10,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2019,2,22]],"date-time":"2019-02-22T00:00:00Z","timestamp":1550793600000},"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":[[2019,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p><jats:styled-content style=\"fixed-case\">CEDNIK<\/jats:styled-content> (CErebral Dysgenesis, Neuropathy, Ichthyosis, and Keratoderma) syndrome is a neuroichthyotic syndrome characterized by a constellation of clinical features including severe developmental retardation, microcephaly, and facial dysmorphism. Here, we report the first case of <jats:styled-content style=\"fixed-case\">CEDNIK<\/jats:styled-content> syndrome from India presenting with characteristic clinical features and harboring a novel mutation of SNAP29 gene.<\/jats:p>","DOI":"10.1111\/pde.13761","type":"journal-article","created":{"date-parts":[[2019,2,22]],"date-time":"2019-02-22T12:46:30Z","timestamp":1550839590000},"page":"372-376","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":12,"title":["CEDNIK syndrome in an Indian patient with a novel mutation of the SNAP29 gene"],"prefix":"10.1111","volume":"36","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7816-4230","authenticated-orcid":false,"given":"Shital","family":"Poojary","sequence":"first","affiliation":[{"name":"Department of Dermatology, Venereology and Leprology K. J. Somaiya Medical College  Mumbai Maharashtra India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kapisha S.","family":"Shah","sequence":"additional","affiliation":[{"name":"Department of Dermatology, Venereology and Leprology K. J. Somaiya Medical College  Mumbai Maharashtra India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Krishna B.","family":"Bhalala","sequence":"additional","affiliation":[{"name":"Department of Dermatology, Venereology and Leprology K. J. Somaiya Medical College  Mumbai Maharashtra India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anaita Udwadia","family":"Hegde","sequence":"additional","affiliation":[{"name":"Jaslok Hospital and Research Center Breach Candy Hospital Trust Bai Jerbai Wadia Hospital for Children SRCC Children's Hospital managed by Narayana Health  Mumbai India"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2019,2,22]]},"reference":[{"key":"e_1_2_4_2_1","doi-asserted-by":"publisher","DOI":"10.1086\/432556"},{"key":"e_1_2_4_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2133.2010.10133.x"},{"key":"e_1_2_4_4_1","doi-asserted-by":"publisher","DOI":"10.1111\/1346-8138.12917"},{"key":"e_1_2_4_5_1","doi-asserted-by":"publisher","DOI":"10.1177\/2329048X17733214"},{"key":"e_1_2_4_6_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2012-101320"},{"key":"e_1_2_4_7_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0009759"},{"key":"e_1_2_4_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jid.2015.12.020"},{"key":"e_1_2_4_9_1","doi-asserted-by":"publisher","DOI":"10.1007\/s004410100359"},{"key":"e_1_2_4_10_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.1104799"},{"key":"e_1_2_4_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-9861(19980511)394:3<374::AID-CNE8>3.0.CO;2-Z"}],"container-title":["Pediatric Dermatology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fpde.13761","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/pde.13761","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1111\/pde.13761","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/pde.13761","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,10]],"date-time":"2023-09-10T14:54:37Z","timestamp":1694357677000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/pde.13761"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,2,22]]},"references-count":10,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2019,5]]}},"alternative-id":["10.1111\/pde.13761"],"URL":"https:\/\/doi.org\/10.1111\/pde.13761","archive":["Portico"],"relation":{},"ISSN":["0736-8046","1525-1470"],"issn-type":[{"value":"0736-8046","type":"print"},{"value":"1525-1470","type":"electronic"}],"subject":[],"published":{"date-parts":[[2019,2,22]]},"assertion":[{"value":"2019-02-22","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}