Nova mutacija kanalčka KCNJ2 pri bolnici s sindromom Andersen-Tawil

Andersen-Tawil syndrome (ATS) is a rare inherited or sporadic disorder characterized by ventricular arrhythmias, characteristic QT-U wave patterns in electrocardiogram, periodic paralysis, and dysmorphic features. We describe a patient of Slovenian origin who exhibited mild dysmorphic features, repe...

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Bibliographic Details
Main Authors: Matjaž Šinkovec, Andrej Pernat, Matevž Jan, Bor Antolič, Jernej Kovač, Katarina Trebušak Podkrajšek, Maruša Debeljak
Format: Article
Language:English
Published: Slovenian Medical Association 2013-01-01
Series:Zdravniški Vestnik
Online Access:http://vestnik.szd.si/index.php/ZdravVest/article/view/734