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_SII
Desmoplakin mutations with palmoplantar keratoderma, woolly hair and cardiomyopathy.
Pigors M et al.
Acta Dermato-venereologica, 2015
Novel desmoplakin mutation: juvenile biventricular cardiomyopathy with left ventricular non-compaction and acantholytic palmoplantar keratoderma.
Williams T et al.
Clinical Research in Cardiology : Official Journal of the German Cardiac Society, 2011
Lethal acantholytic epidermolysis bullosa due to a novel homozygous deletion in DSP: expanding the phenotype and implications for desmoplakin function in skin and heart.
Bolling MC et al.
The British Journal of Dermatology, 2010
Compound heterozygosity for non-sense and mis-sense mutations in desmoplakin underlies skin fragility/woolly hair syndrome.
Whittock NV et al.
The Journal of Investigative Dermatology, 2002
Select a paper to view details