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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Publicat a:Sci Rep
Autors principals: 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
Format: Artigo
Idioma:Inglês
Publicat: Nature Publishing Group UK 2020
Matèries:
Article
Accés en línia: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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