{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,5,14]],"date-time":"2025-05-14T01:52:44Z","timestamp":1747187564511,"version":"3.40.5"},"reference-count":5,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2022,3,1]],"date-time":"2022-03-01T00:00:00Z","timestamp":1646092800000},"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":[[2022,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>CEDNIK syndrome is a rare autosomal recessive syndrome characterized by cerebral dysgenesis, neuropathy, ichthyosis, and keratoderma of which 25 cases from 19 families have been reported to date. It is a progressive neurodegenerative disorder caused by the loss\u2010of\u2010function pathogenic variant of the <jats:italic>SNAP29<\/jats:italic>\u00a0gene encoding a member of the <jats:italic>SNARE<\/jats:italic> family of proteins. We describe two female siblings from a Syrian parent\u2010related family with CEDNIK syndrome due to homozygous pathogenic variant in <jats:italic>SNAP29 [c<\/jats:italic>.<jats:italic>223delG(p<\/jats:italic>.<jats:italic>Val75Serf*28)]<\/jats:italic>. Palmoplantar keratoderma, reported as a cardinal sign in CEDNIK syndrome, was absent in both patients as of the last follow\u2010up, and one of our patients had a verrucous venous malformation, a finding that has not been previously reported.<\/jats:p>","DOI":"10.1111\/pde.14961","type":"journal-article","created":{"date-parts":[[2022,3,1]],"date-time":"2022-03-01T12:34:49Z","timestamp":1646138089000},"page":"650-652","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["CEDNIK syndrome with phenotypic variability"],"prefix":"10.1111","volume":"39","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-1223-3181","authenticated-orcid":false,"given":"Arti","family":"Nanda","sequence":"first","affiliation":[{"name":"As\u2019ad Al\u2010Hamad Dermatology Center  Kuwait"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tarek M.","family":"Karam","sequence":"additional","affiliation":[{"name":"As\u2019ad Al\u2010Hamad Dermatology Center  Kuwait"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Atlal","family":"AlLafi","sequence":"additional","affiliation":[{"name":"As\u2019ad Al\u2010Hamad Dermatology Center  Kuwait"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2022,3]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1086\/432556"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2133.2010.10133.x"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1212\/NXG.0000000000000553"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-019-02077-7"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2009.10.007"}],"container-title":["Pediatric Dermatology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/pde.14961","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1111\/pde.14961","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/pde.14961","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,22]],"date-time":"2023-08-22T04:07:02Z","timestamp":1692677222000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/pde.14961"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,3]]},"references-count":5,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2022,7]]}},"alternative-id":["10.1111\/pde.14961"],"URL":"https:\/\/doi.org\/10.1111\/pde.14961","archive":["Portico"],"relation":{},"ISSN":["0736-8046","1525-1470"],"issn-type":[{"type":"print","value":"0736-8046"},{"type":"electronic","value":"1525-1470"}],"subject":[],"published":{"date-parts":[[2022,3]]},"assertion":[{"value":"2022-03-01","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}