A novel COL3A1c.2644G > T; p.(Gly882Cys) variant in a Turkish family with vascular ehlers-danlos syndrome

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dc.authoridVeysel Sabri Hançer / 0000-0003-2994-1077en_US
dc.authorscopusidVeysel Sabri Hançer / 6506533543
dc.authorwosidVeysel Sabri Hançer / X-8971-2018
dc.contributor.authorAydıner, Ömer
dc.contributor.authorHançer, Veysel Sabri
dc.date.accessioned2020-08-30T20:06:10Z
dc.date.available2020-08-30T20:06:10Z
dc.date.issued2020
dc.departmentİstinye Üniversitesi, Tıp Fakültesi, Temel Tıp Bilimleri Bölümüen_US
dc.descriptionHançer, Veysel Sabri (isu author)
dc.description.abstractVascular Ehlers-Danlos syndrome (vEDS) is an autosomal dominant disease, also known as EDS type IV. The estimated prevalence for all EDS varies between 1/10,000 and 1/25,000 with EDS type IV representing approximately 5-10% of the cases. The vascular complications may affect all anatomical areas, with a tendency toward arteries of large and medium diameter. vEDS diagnosis is a challenging process. Patients usually have different phenotypic features and are unaware of the diagnosis at the time of initial vascular complications. The authors report the case of a 39-year-old male patient with EDS type IV, who developed internal carotid artery dissection and was diagnosed with clinical findings, imaging modalities, and a novel pathogenicCOL3A1variant.en_US
dc.identifier.citationAydiner, O., & Hancer, V. S. (2020). A NovelCOL3A1c.2644G > T; p.(Gly882Cys) Variant in a Turkish Family with Vascular Ehlers-Danlos Syndrome. MOLECULAR SYNDROMOLOGY, 11(2), 110–114. https://doi.org/10.1159/000506585en_US
dc.identifier.doi10.1159/000506585en_US
dc.identifier.endpage114en_US
dc.identifier.issn1661-8769en_US
dc.identifier.issn1661-8777en_US
dc.identifier.issue2en_US
dc.identifier.pmid32655343en_US
dc.identifier.scopus2-s2.0-85082195612en_US
dc.identifier.scopusqualityQ4en_US
dc.identifier.startpage110en_US
dc.identifier.urihttps://doi.org/10.1159/000506585
dc.identifier.urihttps://hdl.handle.net/20.500.12713/395
dc.identifier.volume11en_US
dc.identifier.wosWOS:000542588200008en_US
dc.identifier.wosqualityQ4en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.institutionauthorHançer, Veysel Sabrien_US
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/openAccessen_US
dc.subjectCarotid Arteryen_US
dc.subjectIliac Arteryen_US
dc.subjectPathologic Variationen_US
dc.subjectPseudoaneurysmen_US
dc.subjectSpontaneous Dissectionen_US
dc.subjectVascular Ehlers-Danlos Syndromeen_US
dc.titleA novel COL3A1c.2644G > T; p.(Gly882Cys) variant in a Turkish family with vascular ehlers-danlos syndromeen_US
dc.typeArticleen_US

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