Associated Papers
Arrhythmogenic left ventricular cardiomyopathy caused by a novel likely pathogenic DSP mutation, p.K1165Rfs*8, in a family with sudden cardiac death.
Azimi A et al.
Bmc Medical Genomics, 2023
A Novel Variant in the Desmoplakin Gene in One Case of the Rare Carvajal Syndrome with Dilated Cardiomyopathy: A Case Report and Literature Review.
Zhao XJ et al.
Clinical, Cosmetic and Investigational Dermatology, 2023
Variant NAXOS-Carvajal Syndrome with Rare Additional Features of Systemic Bulla and Brittle Nails: A Case Report and Literature Review.
Sato T et al.
Internal Medicine (tokyo, Japan), 2021
Familial screening in case of acute myocarditis reveals inherited arrhythmogenic left ventricular cardiomyopathies.
Piriou N et al.
Esc Heart Failure, 2020
A novel mutation in the desmoplakin gene in two female siblings with a rare form of dilated cardiomyopathy: Carvajal syndrome.
Ramoğlu MG et al.
Anatolian Journal of Cardiology, 2017
Autosomal dominant Carvajal plus syndrome due to the novel desmoplakin mutation c.1678A > T (p.Ile560Phe).
Finsterer J et al.
Molecular Genetics and Metabolism Reports, 2016
Two Novel Homozygous Desmoplakin Mutations in Carvajal Syndrome.
Molho-Pessach V et al.
Pediatric Dermatology, 0
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