Long QT, syndactyly, joint contractures, stroke and novel CACNA1C mutation: Expanding the spectrum of Timothy syndrome
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.34355/fullpdf
Reference11 articles.
1. Somatic mosaicism contributes to phenotypic variation in Timothy syndrome;Etheridge;Am J Genet Part A,2011
2. Idiopathic long QT syndrome in a black infant;Levin;Cardiovasc J South Africa,1992
3. Syndactyly and long QT syndrome (CaV1.2 missense mutation G406R) is associated with hypertrophic cardiomyopathy;Lo-A-Njoe;Heart Rhythm,2005
4. Long QT syndrome associated with syndactyly identified in females;Marks;Am J Cardiol,1995a
5. A new form of long QT syndrome associated with syndactyly;Marks;J Am Coll Cardiol,1995b
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