A Novel Heterozygous Desmoplakin Variant Causes Cardiocutaneous Syndrome with Arrhythmogenic Cardiomyopathy and Palmoplantar Keratosis

Cardiocutaneous syndrome (CCS) is often caused by genetic variants in desmoplakin (DSP) in the presence of thick calluses on the hands and soles of the feet (palmoplantar keratoderma) in combination with arrhythmogenic cardiomyopathy. In this case report, we describe a 58-year-old man presenting wit...

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Detalles Bibliográficos
Autores principales: Çimen, Tolga, Medeiros-Domingo, Argelia, Kolios, Antonios, Akdiş, Deniz, Anwer, Shehab, Tanner, Felix C., Brunckhorst, Corinna, Duru, Firat, Saguner, Ardan M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9917917/
https://www.ncbi.nlm.nih.gov/pubmed/36769561
http://dx.doi.org/10.3390/jcm12030913

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9917917/
https://www.ncbi.nlm.nih.gov/pubmed/36769561
http://dx.doi.org/10.3390/jcm12030913

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