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dc.contributor.authorErgül, Yakup
dc.contributor.authorÖzyılmaz, İsa
dc.contributor.authorHaydın, Sertaç
dc.contributor.authorGüzeltaş, Alper
dc.contributor.authorTuzcu, Volkan
dc.date.accessioned10.07.201910:49:13
dc.date.accessioned2019-07-10T19:36:05Z
dc.date.available10.07.201910:49:14
dc.date.available2019-07-10T19:36:05Z
dc.date.issued2015en_US
dc.identifier.citationErgül, Y., Özyılmaz, İ., Haydın, S., Güzeltaş, A. ve Tuzcu, V. (2015). A rare association with suffered cardiac arrest, long qt interval, and syndactyly: Timothy syndrome (LQT-8).Anatolian Journal of Cardiology, 15(8), 672-674. https://dx.doi.org/10.5152/AnatolJCardiol.2015.6315en_US
dc.identifier.issn1302-8723
dc.identifier.issn2149-2271
dc.identifier.urihttps://hdl.handle.net/20.500.12511/1055
dc.identifier.urihttps://dx.doi.org/10.5152/AnatolJCardiol.2015.6315
dc.description.abstractTimothy syndrome (TS), also referred to as syndactylyassociated long QT syndrome (LQTS) or LQT8, is a multi-system disorder characterized by developmental defects causing dysmorphic facial features, congenital heart abnormalities, neurocognitive impairment, and webbing of the toes and fingers (syndactyly) (1). TS is caused by mutations of the CACNA1C gene, which encodes L-type calcium channel Ca (V) 1.2. Two types of TS have been defined according to the mutation sites: G406R in exon 8A (TS1) and G402S/G406R in exon 8 (TS2). These gain-offunction mutations result in an impaired open-state and voltagedependent inactivation of the L-type calcium channel, ultimately 672 Case Reports Anatol J Cardiol 2015; 15: 671-4 leading to a markedly prolonged myocardial action potential (delayed ventricular repolarization) (1-4).en_US
dc.language.isoengen_US
dc.publisherTurkish Society of Cardiologyen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.subjectTimothy Syndromeen_US
dc.subjectSuffered Cardiacen_US
dc.subjectSyndactylyen_US
dc.titleA rare association with suffered cardiac arrest, long qt interval, and syndactyly: Timothy syndrome (LQT-8)en_US
dc.typeotheren_US
dc.relation.journalAnatolian Journal of Cardiologyen_US
dc.departmentİstanbul Medipol Üniversitesi, Tıp Fakültesi, Dahili Tıp Bilimleri Bölümü, Çocuk Sağlığı ve Hastalıkları Ana Bilim Dalıen_US
dc.authorid0000-0001-9008-4997en_US
dc.identifier.volume15en_US
dc.identifier.issue8en_US
dc.identifier.startpage672en_US
dc.identifier.endpage674en_US
dc.relation.publicationcategoryDiğeren_US
dc.identifier.doi10.5152/AnatolJCardiol.2015.6315en_US


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