Associated Papers
A frameshift variation in the DSP gene causes a novel subtype of atypical epidermolytic palmoplantar keratoderma: Case report.
Lin C et al.
Frontiers in Medicine, 2025
Arrhythmogenic left ventricular cardiomyopathy mimicking acute myocardial infarction.
Wu CC et al.
Journal of Geriatric Cardiology : Jgc, 2024
Genotype is associated with left ventricular reverse remodelling and early events in recent-onset dilated cardiomyopathy.
Kubanek M et al.
Esc Heart Failure, 2024
39129193 (PubMed )
Supplement: EHF2-11-4127-s002.xlsx › non-ttn_up
Variant Location Is a Novel Risk Factor for Individuals With Arrhythmogenic Cardiomyopathy Due to a Desmoplakin (DSP) Truncating Variant.
Hoorntje ET et al.
Circulation. Genomic and Precision Medicine, 2023
36580316 (PubMed )
Supplement: EMS158320-supplement-Supplemental_Tables.xlsx › Table_SII
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
Heterozygous Arrhythmogenic Cardiomyopathy-desmoplakin Mutation Carriers Exhibit a Subclinical Cutaneous Phenotype with Cell Membrane Disruption and Lack of Intercellular Adhesion.
Cabrera-Borrego E et al.
Journal of Clinical Medicine, 2021
Acute Myocarditis-Like Episode in a Curly-Haired Young Boy-Red Flags for Familial Arrhythmogenic Cardiomyopathy.
Pătru AE et al.
Diagnostics (basel, Switzerland), 2020
Desmoplakin Cardiomyopathy, a Fibrotic and Inflammatory Form of Cardiomyopathy Distinct From Typical Dilated or Arrhythmogenic Right Ventricular Cardiomyopathy.
Smith ED et al.
Circulation, 2020
Successful use of topical minoxidil in the treatment of hypotrichosis associated with desmoplakin mutations.
Dowd M et al.
Pediatric Dermatology, 2019
Compound heterozygous mutations in desmoplakin associated with skin fragility, follicular hyperkeratosis, alopecia, and nail dystrophy.
Bari O et al.
Pediatric Dermatology, 2018
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
Early-onset heart failure, alopecia, and cutaneous abnormalities associated with a novel compound heterozygous mutation in desmoplakin.
Antonov NK et al.
Pediatric Dermatology, 0
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