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Ectodermal dysplasia–skin fragility syndrome resulting from a new homozygous mutation, 888delC, in the desmosomal protein plakophilin 1

Skin DevelopmentMendelian DisorderGenetic DisorderGeneticsPathologyEctodermal Dysplasia–skin FragilityNew Homozygous MutationMolecular GeneticsDermatologyDermatopathologyMedicineDesmosomal Protein