{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,27]],"date-time":"2026-06-27T17:22:52Z","timestamp":1782580972662,"version":"3.54.5"},"reference-count":2,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2022,1,19]],"date-time":"2022-01-19T00:00:00Z","timestamp":1642550400000},"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":[[2022,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Herein, we report a lethal case of the ultra\u2010rare COG6\u2010congenital disorder of glycosylation (CDG) presenting with skin manifestations (scaling and erosions) and joint contractures in a neonate of Albanian origin. The patient was homozygous for a COG6 pathogenic variant, previously reported in another three individuals of Greek, Bulgarian and Turkish descent. The presence of a founder mutation in the geographical area is possible. The index case emphasizes the need to consider CDGs in neonatal patients with skin manifestations and joint contractures, particularly patients of Southeastern European or West Asian origin.<\/jats:p>","DOI":"10.1111\/pde.14922","type":"journal-article","created":{"date-parts":[[2022,1,20]],"date-time":"2022-01-20T02:58:27Z","timestamp":1642647507000},"page":"314-315","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["Lethal COG6\u2010CDG in neonatal patient with arachnodactyly, joint contractures, and skin manifestations: Founder mutation in the Southeastern European population?"],"prefix":"10.1111","volume":"39","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8393-4444","authenticated-orcid":false,"given":"Athina","family":"Ververi","sequence":"first","affiliation":[{"name":"1st Department of Neonatology and Neonatal Intensive Care Unit School of Medicine Aristotle University of Thessaloniki Ippokrateion General Hospital  Thessaloniki Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Theodora","family":"Stathopoulou","sequence":"additional","affiliation":[{"name":"1st Department of Neonatology and Neonatal Intensive Care Unit School of Medicine Aristotle University of Thessaloniki Ippokrateion General Hospital  Thessaloniki Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aggeliki","family":"Kontou","sequence":"additional","affiliation":[{"name":"1st Department of Neonatology and Neonatal Intensive Care Unit School of Medicine Aristotle University of Thessaloniki Ippokrateion General Hospital  Thessaloniki Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria","family":"Farini","sequence":"additional","affiliation":[{"name":"1st Department of Neonatology and Neonatal Intensive Care Unit School of Medicine Aristotle University of Thessaloniki Ippokrateion General Hospital  Thessaloniki Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Georgia","family":"Vlahou","sequence":"additional","affiliation":[{"name":"1st Department of Neonatology and Neonatal Intensive Care Unit School of Medicine Aristotle University of Thessaloniki Ippokrateion General Hospital  Thessaloniki Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nikolaos","family":"Demiris","sequence":"additional","affiliation":[{"name":"1st Department of Neonatology and Neonatal Intensive Care Unit School of Medicine Aristotle University of Thessaloniki Ippokrateion General Hospital  Thessaloniki Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kosmas","family":"Sarafidis","sequence":"additional","affiliation":[{"name":"1st Department of Neonatology and Neonatal Intensive Care Unit School of Medicine Aristotle University of Thessaloniki Ippokrateion General Hospital  Thessaloniki Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2022,1,19]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2015.07.003"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/jmd2.12154"}],"container-title":["Pediatric Dermatology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/pde.14922","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1111\/pde.14922","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/pde.14922","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,23]],"date-time":"2023-08-23T18:44:23Z","timestamp":1692816263000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/pde.14922"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,1,19]]},"references-count":2,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2022,3]]}},"alternative-id":["10.1111\/pde.14922"],"URL":"https:\/\/doi.org\/10.1111\/pde.14922","archive":["Portico"],"relation":{},"ISSN":["0736-8046","1525-1470"],"issn-type":[{"value":"0736-8046","type":"print"},{"value":"1525-1470","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,1,19]]},"assertion":[{"value":"2021-09-25","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-01-04","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-01-19","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}