Publication | Open Access

Homozygous Splice Site Mutations in PKP1 Result in Loss of Epidermal Plakophilin 1 Expression and Underlie Ectodermal Dysplasia/Skin Fragility Syndrome in Two Consanguineous Families

Epidermal Plakophilin 1Signal TransductionGenetic DisorderCutaneous BiologyGeneticsPathologyConsanguineous FamiliesMolecular GeneticsDermatologyDermatopathologyMedicinePkp1 Result