Arrhythmogenic right ventricular cardiomyopathy in patients with biallelic JUP-associated skin fragility

Arrhythmogenic right ventricular cardiomyopathy (ARVC), with skin manifestations, has been associated with mutations in JUP encoding plakoglobin. Genotype–phenotype correlations regarding the penetrance of cardiac involvement, and age of onset have not been well established. We examined a cohort of...

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Publicado en:Sci Rep
Main Authors: Vahidnezhad, Hassan, Youssefian, Leila, Faghankhani, Masoomeh, Mozafari, Nikoo, Saeidian, Amir Hossein, Niaziorimi, Fatemeh, Abdollahimajd, Fahimeh, Sotoudeh, Soheila, Rajabi, Fateme, Mirsafaei, Liaosadat, Sani, Zahra Alizadeh, Liu, Lu, Guy, Alyson, Zeinali, Sirous, Kariminejad, Ariana, Ho, Reginald T., McGrath, John A., Uitto, Jouni
Formato: Artigo
Idioma:Inglês
Publicado: Nature Publishing Group UK 2020
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Article
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC7729882/
https://ncbi.nlm.nih.gov/pubmed/33303784
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41598-020-78344-9
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