{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,9]],"date-time":"2026-04-09T17:16:45Z","timestamp":1775755005159,"version":"3.50.1"},"reference-count":3,"publisher":"S. Karger AG","issue":"2","license":[{"start":{"date-parts":[[2023,1,1]],"date-time":"2023-01-01T00:00:00Z","timestamp":1672531200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/karger.com\/pages\/terms-and-conditions"},{"start":{"date-parts":[[2023,1,1]],"date-time":"2023-01-01T00:00:00Z","timestamp":1672531200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/karger.com\/pages\/terms-and-conditions"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Mol Syndromol"],"published-print":{"date-parts":[[2023]]},"abstract":"<jats:p>Introduction: Congenital disorders of glycosylation (CDG) are autosomal recessive hereditary genetic disorders characterized by abnormal glycosylation of N-linked oligosaccharides. Case Presentation: In this research, prenatal testing (24th week of pregnancy) revealed findings like polyhydramnios, hydrocephaly, abnormal facial features\/shape, brain morphology abnormality, spina bifida, vertebral column abnormality, macrocephaly, scoliosis, micrognathia, abnormal kidney morphology, short fetal femur length, and short fetal humerus length in the fetus. Whole-exome sequencing was performed; the COG5 gene has shown a pathogenic variant. Discussion: Homozygous patients have never been seen before in the literature for COG5-CDG. We demonstrate the first CDG patient at fetus stage with homozygous COG5 c.95T&gt;G variant. <\/jats:p>","DOI":"10.1159\/000527221","type":"journal-article","created":{"date-parts":[[2023,1,13]],"date-time":"2023-01-13T22:05:17Z","timestamp":1673647517000},"page":"181-184","source":"Crossref","is-referenced-by-count":4,"title":["The First Congenital Disorders of Glycosylation Patient (Fetus) with Homozygous COG5 c.95T&gt;G Variant"],"prefix":"10.1159","volume":"14","author":[{"given":"Murat","family":"Buyukdogan","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2994-1077","authenticated-orcid":false,"given":"Veysel Sabri","family":"Hancer","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ayhan","family":"Sucak","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"127","published-online":{"date-parts":[[2023,1,13]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1093\/glycob\/cwr028"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-7-94"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1016\/j.carres.2008.01.034"}],"container-title":["Molecular Syndromology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/karger.com\/msy\/article-pdf\/14\/2\/181\/3963092\/000527221.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/karger.com\/msy\/article-pdf\/14\/2\/181\/3963092\/000527221.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,23]],"date-time":"2025-04-23T15:24:04Z","timestamp":1745421844000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000527221"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023]]},"references-count":3,"journal-issue":{"issue":"2","published-online":{"date-parts":[[2023,4,3]]},"published-print":{"date-parts":[[2023,4,20]]}},"URL":"https:\/\/doi.org\/10.1159\/000527221","archive":["Portico"],"relation":{},"ISSN":["1661-8769","1661-8777"],"issn-type":[{"value":"1661-8769","type":"print"},{"value":"1661-8777","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023]]}}}