A Scandinavian Case of Skin Fragility, Alopecia, and Cardiomyopathy Caused by DSP Mutations

    Anders Vahlquist, Marie Virtanen, Maritta Hellström-Pigg … Frances Smith
    Studysummary This study reports a case of a child with congenital skin fragility, alopecia, and cardiomyopathy due to compound heterozygous mutations in the DSP gene causing desmoplakin deficiency.
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