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
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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