The first congenital disorders of glycosylation patient (fetus) with homozygous cog5 c.95t>g variant

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dc.authoridMurat Büyükdoğan / 0000-0001-7948-0235en_US
dc.authoridVeysel Sabri Hançer / 0000-0003-2994-1077en_US
dc.authoridAyhan Sucak / 0000-0002-9660-2449en_US
dc.authorscopusidMurat Büyükdoğan / 35247676100en_US
dc.authorscopusidVeysel Sabri Hançer / 6506533543en_US
dc.authorscopusidAyhan Sucak / 57218312495en_US
dc.authorwosidMurat Büyükdoğan / CJP-2653-2022en_US
dc.authorwosidVeysel Sabri Hançer / CSF-7815-2022en_US
dc.authorwosidAyhan Sucak / EAK-6128-2022en_US
dc.contributor.authorBüyükdoğan, Murat
dc.contributor.authorHançer, Veysel Sabri
dc.contributor.authorSucak, Ayhan
dc.date.accessioned2023-05-22T12:14:06Z
dc.date.available2023-05-22T12:14:06Z
dc.date.issued2023en_US
dc.departmentİstinye Üniversitesi, Tıp Fakültesi, Dahili Tıp Bilimleri Bölümüen_US
dc.description.abstractIntroduction: 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>G variant.en_US
dc.identifier.citationBuyukdogan, M., Hancer, V. S., & Sucak, A. The First Congenital Disorders of Glycosylation Patient (Fetus) with Homozygous COG5 c. 95T> G Variant. Molecular Syndromology, 1-3.en_US
dc.identifier.doi10.1159/000527221en_US
dc.identifier.issn1661-8777en_US
dc.identifier.issn1661-8769en_US
dc.identifier.scopus2-s2.0-85147455094en_US
dc.identifier.urihttp://dx.doi.org/10.1159/000527221
dc.identifier.urihttps://hdl.handle.net/20.500.12713/3915
dc.identifier.wosWOS:000916760000001en_US
dc.identifier.wosqualityQ4en_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.institutionauthorBüyükdoğan, Murat
dc.institutionauthorHançer, Veysel Sabri
dc.institutionauthorSucak, Ayhan
dc.language.isoenen_US
dc.publisherKargeren_US
dc.relation.ispartofMolecular Syndromologyen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectCongenital Disorder of Glycosylationen_US
dc.subjectCOG5en_US
dc.subjectMutationen_US
dc.subjectPrenatal Testingen_US
dc.subjectFetusen_US
dc.titleThe first congenital disorders of glycosylation patient (fetus) with homozygous cog5 c.95t>g varianten_US
dc.typeArticleen_US

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