Heterozygous Arrhythmogenic Cardiomyopathy-Desmoplakin Mutation Carriers Exhibit a Subclinical Cutaneous Phenotype with Cell Membrane Disruption and Lack of Intercellular Adhesion

    October 2021 in “ Journal of Clinical Medicine ”
    Eva Cabrera‐Borrego, Trinidad Montero‐Vílchez, Francisco Bermúdez-Jiménez … Juan Jiménez‐Jáimez
    Studysummary This study found that individuals with heterozygous truncation-type variants in the *DSP* gene exhibit lower skin temperature and higher transepidermal water loss, with specific microscopic skin changes and pseudomonilethrix.
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