Associated Papers
A novel KRT1 c.1433A>G p.(Glu478Gly) mutation in a newborn with epidermolytic ichthyosis.
Caroppo F et al.
Clinical Case Reports, 2020
Novel and recurrent mutations in keratin 1 cause epidermolytic ichthyosis and palmoplantar keratoderma.
Smith FJD et al.
Clinical and Experimental Dermatology, 2019
Phenotypic variation in epidermolytic ichthyosis: clinical and functional evaluation of the novel p.(Met339Lys) mutation in the L12 domain of KRT1.
Nellen RG et al.
Experimental Dermatology, 2015
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