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
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
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
Arrhythmogenic dilated cardiomyopathy due to a novel mutation in the desmoplakin gene.
Krishnamurthy S et al.
Indian Journal of Pediatrics, 2011
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