Condition: Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
rs1390387214 in
DSC2 gene and
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
PMID 19863551 2010 Role of genetic testing in arrhythmogenic right ventricular cardiomyopathy/dysplasia.
PMID 21062920 2011 Mechanistic insights into arrhythmogenic right ventricular cardiomyopathy caused by desmocollin-2 mutations.
PMID 28256248 2017 Whole-Exome Sequencing Identifies a Novel Mutation of Desmocollin 2 in a Chinese Family With Arrhythmogenic Right Ventricular Cardiomyopathy.
PMID 17033975 2006 Arrhythmogenic right ventricular dysplasia/cardiomyopathy associated with mutations in the desmosomal gene desmocollin-2.
PMID 23911551 2013 Mechanistic basis of desmosome-targeted diseases.
PMID 23863954 2013 Homozygous founder mutation in desmocollin-2 (DSC2) causes arrhythmogenic cardiomyopathy in the Hutterite population.
PMID 18957847 2009 Homozygous mutation of desmocollin-2 in arrhythmogenic right ventricular cardiomyopathy with mild palmoplantar keratoderma and woolly hair.
PMID 28600387 2017 Genetic Testing in the Evaluation of Unexplained Cardiac Arrest: From the CASPER (Cardiac Arrest Survivors With Preserved Ejection Fraction Registry).