Geno- and phenotypic characteristics and clinical outcomes of CACNA1C gene mutation associated Timothy syndrome, “cardiac only” Timothy syndrome and isolated long QT syndrome 8: A systematic review

BACKGROUND: Mutations in the CACNA1C gene–encoding for the major Ca(2+) channel of the heart–may exhibit a variety of clinical manifestations. These include typical or atypical Timothy syndromes (TS) which are associated with multiple organ manifestations, and cardiac involvement in form of malignan...

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Detalles Bibliográficos
Autores principales: Borbás, János, Vámos, Máté, Hategan, Lidia, Hanák, Lilla, Farkas, Nelli, Szakács, Zsolt, Csupor, Dezső, Tél, Bálint, Kupó, Péter, Csányi, Beáta, Nagy, Viktória, Komócsi, András, Habon, Tamás, Hegyi, Péter, Sepp, Róbert
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Cardiovascular Medicine
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9745330/
https://www.ncbi.nlm.nih.gov/pubmed/36523353
http://dx.doi.org/10.3389/fcvm.2022.1021009

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