Associated Papers
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_SVII
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
Arrhythmogenic right ventricular dysplasia, cutaneous manifestations and desmoplakin mutation: Carvajal syndrome.
Erolu E et al.
Pediatrics International : Official Journal of the Japan Pediatric Society, 2018
Compound heterozygous mutations in desmoplakin associated with skin fragility, follicular hyperkeratosis, alopecia, and nail dystrophy.
Bari O et al.
Pediatric Dermatology, 2018
Alopecia, palmoplantar keratoderma, skin fragility and follicular hyperkeratoses due to compound heterozygous mutations in desmoplakin.
Tekin B et al.
The Australasian Journal of Dermatology, 2017
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