Associated Papers
A novel frameshift truncation mutation in the V2 tail domain of KRT1 causes mild ichthyosis hystrix of Curth-Macklin.
Yang Z et al.
Clinical and Experimental Dermatology, 2020
Arginine- but not alanine-rich carboxy-termini trigger nuclear translocation of mutant keratin 10 in ichthyosis with confetti.
Renz P et al.
Journal of Cellular and Molecular Medicine, 2019
Revertant mosaicism in genodermatoses.
Lim YH et al.
Cellular and Molecular Life Sciences : Cmls, 2017
Expanding the Mutation Spectrum of Ichthyosis with Confetti.
Lim YH et al.
The Journal of Investigative Dermatology, 2016
Expanding the Clinical and Genetic Spectrum of KRT1, KRT2 and KRT10 Mutations in Keratinopathic Ichthyosis.
Hotz A et al.
Acta Dermato-venereologica, 2016
Frequent somatic reversion of KRT1 mutations in ichthyosis with confetti.
Choate KA et al.
The Journal of Clinical Investigation, 2015
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