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).