Ectodermal dysplasia-skin fragility syndrome resulting from a new homozygous mutation , 888delC , in the desmosomal protein plakophilin 1 .
B-DiseaseOrPhenotypicFeature I-DiseaseOrPhenotypicFeature I-DiseaseOrPhenotypicFeature I-DiseaseOrPhenotypicFeature O O O O O O O B-SequenceVariant O O O O O B-GeneOrGeneProduct I-GeneOrGeneProduct O