Genome sequencing in a genetically elusive multigenerational long QT syndrome pedigree identifies a novel LQT2-causative deeply intronic KCNH2 variant-Reference-Cited by-同舟云学术

Genome sequencing in a genetically elusive multigenerational long QT syndrome pedigree identifies a novel LQT2-causative deeply intronic KCNH2 variant

Published:2022-06 Issue:6 Volume:19 Page:998-1007
ISSN:1547-5271
Container-title:Heart Rhythm
language:en
Short-container-title:Heart Rhythm

Author:

Tobert Kathryn E.,Tester David J.,Zhou Wei,Haglund-Turnquist Carla M.,Giudicessi John R.,Ackerman Michael J.

Funder

Mayo Clinic

Publisher

Elsevier BV

Subject

Physiology (medical),Cardiology and Cardiovascular Medicine

Reference28 articles.

1. Inherited cardiac arrhythmias;Schwartz;Nat Rev Dis Primers,2020

2. Prevalence of the congenital long-QT syndrome;Schwartz;Circulation,2009

3. Cardiac channelopathies: it's in the genes;Ackerman;Nat Med,2004

4. The genetic architecture of long QT syndrome: a critical reappraisal;Giudicessi;Trends Cardiovasc Med,2018

5. An international, multicentered, evidence-based reappraisal of genes reported to cause congenital long QT syndrome;Adler;Circulation,2020

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