Frequent somatic reversion of KRT1 mutations in ichthyosis with confetti.

@article{Zaki2015FrequentSR,
  title={Frequent somatic reversion of KRT1 mutations in ichthyosis with confetti.},
  author={Theodore D Zaki and Yin Lu and Jing Zhou and Peter M Elias and Samir Zaidi and Amy Paller and A. Farhi and Carol Nelson-Williams and Debra A. Crumrine and Leonard M. Milstone and Richard P. Lifton},
  journal={The Journal of clinical investigation},
  year={2015},
  volume={125 4},
  pages={1703-7}
}
Widespread reversion of genetic disease is rare; however, such events are particularly evident in some skin disorders in which normal clones develop on a background of affected skin. We previously demonstrated that mutations in keratin 10 (KRT10) cause ichthyosis with confetti (IWC), a severe dominant disorder that is characterized by progressive development of hundreds of normal skin spots via revertant mosaicism. Here, we report on a clinical and histological IWC subtype in which affected… CONTINUE READING
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