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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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Detalles Bibliográficos
Autores principales: 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: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7729882/
https://www.ncbi.nlm.nih.gov/pubmed/33303784
http://dx.doi.org/10.1038/s41598-020-78344-9