Please use this identifier to cite or link to this item:
https://hdl.handle.net/20.500.11851/9108
Full metadata record
DC Field | Value | Language |
---|---|---|
dc.contributor.author | Akbuga, Kursat | en_US |
dc.contributor.author | Karanfil, Mustafa | en_US |
dc.date.accessioned | 2022-11-30T19:33:15Z | - |
dc.date.available | 2022-11-30T19:33:15Z | - |
dc.date.issued | 2023 | - |
dc.identifier.issn | 2324-9269 | - |
dc.identifier.uri | https://doi.org/10.1002/mgg3.2079 | - |
dc.identifier.uri | https://hdl.handle.net/20.500.11851/9108 | - |
dc.description.abstract | Background: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.iso | en | en_US |
dc.publisher | Wiley | en_US |
dc.relation.ispartof | Molecular Genetics & Genomic Medicine | en_US |
dc.rights | info:eu-repo/semantics/closedAccess | en_US |
dc.subject | electrocardiography | en_US |
dc.subject | long QT syndrome | en_US |
dc.subject | mutation | en_US |
dc.subject | Long-Qt Syndrome | en_US |
dc.subject | Spectrum | en_US |
dc.subject | Patterns | en_US |
dc.title | Same family, same mutation, different ECG | en_US |
dc.type | Article | en_US |
dc.department | TOBB University of Economics and Technology (TOBB ETU) | en_US |
dc.authorid | Akbuga, Kursat/0000-0002-7716-6143 | en_US |
dc.identifier.wos | WOS:000874671400001 | en_US |
dc.identifier.scopus | 2-s2.0-85141383798 | en_US |
dc.identifier.pmid | 36305573 | - |
dc.identifier.doi | 10.1002/mgg3.2079 | - |
dc.authorscopusid | 55915602400 | - |
dc.authorscopusid | 55836016800 | - |
dc.relation.publicationcategory | Makale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı | en_US |
dc.identifier.scopusquality | Q3 | - |
dc.ozel | 2022v3_Edit | en_US |
item.fulltext | No Fulltext | - |
item.grantfulltext | none | - |
item.openairetype | Article | - |
item.cerifentitytype | Publications | - |
item.openairecristype | http://purl.org/coar/resource_type/c_18cf | - |
item.languageiso639-1 | en | - |
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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