Associated Papers
Dominant de novo DSP mutations cause erythrokeratodermia-cardiomyopathy syndrome.
Boyden LM et al.
Human Molecular Genetics, 2016
When rare illuminates common: how cardiocutaneous syndromes transformed our perspective on arrhythmogenic cardiomyopathy.
Sen-Chowdhry S et al.
Cell Communication & Adhesion, 2014
Insights from a desmoplakin mutation identified in lethal acantholytic epidermolysis bullosa.
Hobbs RP et al.
The Journal of Investigative Dermatology, 2010
Identification and characterization of DSPIa, a novel isoform of human desmoplakin.
Cabral RM et al.
Cell and Tissue Research, 2010
Unique epidermolytic bullous dermatosis with associated lethal cardiomyopathy related to novel desmoplakin mutations.
Asimaki A et al.
Journal of Cutaneous Pathology, 2009
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