OMIM/107970[Secondary Source ID] - Search Results

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Arrhythmogenic right ventricular dysplasia/cardiomyopathy associated with mutations in the desmosomal gene desmocollin-2.

Syrris P, Ward D, Evans A, Asimaki A, Gandjbakhch E, Sen-Chowdhry S, McKenna WJ. Syrris P, et al. Am J Hum Genet. 2006 Nov;79(5):978-84. doi: 10.1086/509122. Epub 2006 Sep 27. Am J Hum Genet. 2006. PMID: 17033975 Free PMC article.

Mutation in human desmoplakin domain binding to plakoglobin causes a dominant form of arrhythmogenic right ventricular cardiomyopathy.

Rampazzo A, Nava A, Malacrida S, Beffagna G, Bauce B, Rossi V, Zimbello R, Simionati B, Basso C, Thiene G, Towbin JA, Danieli GA. Rampazzo A, et al. Am J Hum Genet. 2002 Nov;71(5):1200-6. doi: 10.1086/344208. Epub 2002 Oct 8. Am J Hum Genet. 2002. PMID: 12373648 Free PMC article.

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