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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Gepubliceerd in:Sci Rep
Hoofdauteurs: 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
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: Nature Publishing Group UK 2020
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Article
Online toegang: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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