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Clinical vignette
Published online: 2024-07-24
Carvajal syndrome related to two distinct molecular variants in desmoplakin gene
Abstract
Not available
References
- Vermeer MC, Andrei D, Marsili L, et al. Towards a better understanding of genotype-phenotype correlations and therapeutic targets for cardiocutaneous genes: the importance of functional studies above prediction. Int J Mol Sci. 2022; 23(18).
- Polivka L, Bodemer C, Hadj-Rabia S. Combination of palmoplantar keratoderma and hair shaft anomalies, the warning signal of severe arrhythmogenic cardiomyopathy: a systematic review on genetic desmosomal diseases. J Med Genet. 2016; 53(5): 289–295.
- López-Ayala JM, Gómez-Milanés I, Sánchez Muñoz JJ, et al. Desmoplakin truncations and arrhythmogenic left ventricular cardiomyopathy: characterizing a phenotype. Europace. 2014; 16(12): 1838–1846.
