Compound Heterozygous SCN5A Mutations in a Toddler - Are they Associated with a More Severe Phenotype?

Compound heterozygosity has been described in inherited arrhythmias, and usually associated with a more severe phenotype. Reports of this occurrence in Brugada syndrome patients are still rare. We report a study of genotype-phenotype correlation after the identification of new variants by genetic te...

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Detalles Bibliográficos
Autores principales: Sacilotto, Luciana, Epifanio, Hindalis Ballesteros, Darrieux, Francisco Carlos da Costa, Wulkan, Fanny, Oliveira, Theo Gremen Mimary, Hachul, Denise Tessariol, Pereira, Alexandre da Costa, Scanavacca, Mauricio Ibrahim
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Sociedade Brasileira de Cardiologia - SBC 2017
Materias:
Brief Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5245850/
https://www.ncbi.nlm.nih.gov/pubmed/28146213
http://dx.doi.org/10.5935/abc.20170006

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