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

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

Abstract 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 c...

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Autores principales: Hassan Vahidnezhad, Leila Youssefian, Masoomeh Faghankhani, Nikoo Mozafari, Amir Hossein Saeidian, Fatemeh Niaziorimi, Fahimeh Abdollahimajd, Soheila Sotoudeh, Fateme Rajabi, Liaosadat Mirsafaei, Zahra Alizadeh Sani, Lu Liu, Alyson Guy, Sirous Zeinali, Ariana Kariminejad, Reginald T. Ho, John A. McGrath, Jouni Uitto
Formato: article
Lenguaje:EN
Publicado: Nature Portfolio 2020
Materias:
Medicine
R
Science
Q
Acceso en línea:https://doaj.org/article/ab057a9d7d3946ec9f202a73bd59378c
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https://doaj.org/article/ab057a9d7d3946ec9f202a73bd59378c

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