Please use this identifier to cite or link to this item: https://hdl.handle.net/20.500.11851/9108
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dc.contributor.authorAkbuga, Kursaten_US
dc.contributor.authorKaranfil, Mustafaen_US
dc.date.accessioned2022-11-30T19:33:15Z-
dc.date.available2022-11-30T19:33:15Z-
dc.date.issued2023-
dc.identifier.issn2324-9269-
dc.identifier.urihttps://doi.org/10.1002/mgg3.2079-
dc.identifier.urihttps://hdl.handle.net/20.500.11851/9108-
dc.description.abstractBackground:Different types of long QT syndromes (LQTS) have distinct ECG manifestations according to the type and magnitude of ion channel dysfunction. While LQT1 carriers usually have broad-based T waves and LQT3 carriers have extended ST segments with relatively narrow peaked T waves; LQT2 carriers have low-amplitude T waves with high incidences of notches. Methods:We describe three members of a family with the same LQTS2 pathogenic variant, but different surface ECG findings. Conclusion:This case shows ECG differences may also occur between family members who have pathogenic variants associated with long QT syndrome.en_US
dc.language.isoenen_US
dc.publisherWileyen_US
dc.relation.ispartofMolecular Genetics & Genomic Medicineen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectelectrocardiographyen_US
dc.subjectlong QT syndromeen_US
dc.subjectmutationen_US
dc.subjectLong-Qt Syndromeen_US
dc.subjectSpectrumen_US
dc.subjectPatternsen_US
dc.titleSame family, same mutation, different ECGen_US
dc.typeArticleen_US
dc.departmentTOBB University of Economics and Technology (TOBB ETU)en_US
dc.authoridAkbuga, Kursat/0000-0002-7716-6143en_US
dc.identifier.wosWOS:000874671400001en_US
dc.identifier.scopus2-s2.0-85141383798-
dc.identifier.scopus2-s2.0-85141383798en_US
dc.identifier.pmid36305573-
dc.identifier.doi10.1002/mgg3.2079-
dc.authorscopusid55915602400-
dc.authorscopusid55836016800-
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.identifier.scopusqualityQ3-
dc.ozel2022v3_Editen_US
item.cerifentitytypePublications-
item.fulltextNo Fulltext-
item.openairecristypehttp://purl.org/coar/resource_type/c_18cf-
item.openairetypeArticle-
item.languageiso639-1en-
item.grantfulltextnone-
Appears in Collections:PubMed İndeksli Yayınlar Koleksiyonu / PubMed Indexed Publications Collection
Scopus İndeksli Yayınlar Koleksiyonu / Scopus Indexed Publications Collection
Tıp Fakültesi Hastanesi
WoS İndeksli Yayınlar Koleksiyonu / WoS Indexed Publications Collection
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