Arrhythmogenic right ventricular cardiomyopathy in patients with biallelic JUP-associated skin fragi...
Arrhythmogenic right ventricular cardiomyopathy in patients with biallelic JUP-associated skin fragility
About this item
Full title
Author / Creator
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. and Uitto, Jouni
Publisher
London: Nature Publishing Group UK
Journal title
Language
English
Formats
Publication information
Publisher
London: Nature Publishing Group UK
Subjects
More information
Scope and Contents
Contents
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 362 families with skin fragility to screen f...
Alternative Titles
Full title
Arrhythmogenic right ventricular cardiomyopathy in patients with biallelic JUP-associated skin fragility
Authors, Artists and Contributors
Author / Creator
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
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_doaj_primary_oai_doaj_org_article_ab057a9d7d3946ec9f202a73bd59378c
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_ab057a9d7d3946ec9f202a73bd59378c
Other Identifiers
ISSN
2045-2322
E-ISSN
2045-2322
DOI
10.1038/s41598-020-78344-9
