A recessive mutation in the DSP gene linked to cardiomyopathy, skin fragility and hair defects impairs the binding of desmoplakin to epidermal keratins and the muscle-specific intermediate filament desmin.

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PMID: 29878302 [PubMed - as supplied by publisher]

Source: The British Journal of Dermatology - June 7, 2018 Category: Dermatology Authors: Favre B, Begré N, Borradori L Tags: Br J Dermatol Source Type: research