Associated Papers
Epidermolytic ichthyosis: Clinical spectrum and burden of disease in a large German cohort.
Frommherz L et al.
Journal of the European Academy of Dermatology and Venereology : Jeadv, 2025
De Novo Mutation in KRT1 Leads to Epidermolytic Palmoplantar Keratoderma: from Chinese Traditional Treatment to Prenatal Diagnosis Using Whole-Exome Sequencing-Plus.
Ge M et al.
Dna and Cell Biology, 2023
Novel and recurrent mutations in keratin 1 cause epidermolytic ichthyosis and palmoplantar keratoderma.
Smith FJD et al.
Clinical and Experimental Dermatology, 2019
A case of bullous congenital ichthyosiform erythroderma (BCIE) caused by a mutation in the 1A helix initiation motif of keratin 1.
Uezato H et al.
The Journal of Dermatology, 2005
Two cases of primarily palmoplantar keratoderma associated with novel mutations in keratin 1.
Terron-Kwiatkowski A et al.
The Journal of Investigative Dermatology, 2002
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