Abstract
A steadily growing number of hereditary palmoplantar keratodermas (PPKs) have been found to result from defective function of epidermal adhesion proteins such as desmoglein 1 (DSG1), a critical component of desmosomes which has been implicated in the pathogenesis of striate, diffuse and focal PPKs. Here we aimed at delineating the genetic basis of a novel dominant form of PPK. We studied three patients from two families diagnosed with PPK. Whole exome sequencing revealed causative pathogenic heterozygous variants in KLF4 gene in the three affected individuals.
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