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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...
Autores principales: | Çimen, Tolga, Medeiros-Domingo, Argelia, Kolios, Antonios, Akdiş, Deniz, Anwer, Shehab, Tanner, Felix C., Brunckhorst, Corinna, Duru, Firat, Saguner, Ardan M. |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2023
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Materias: | |
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 |
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