Associated Papers
Molecular analysis of inherited disorders of cornification in polish patients show novel variants and functional data and provokes questions on the significance of secondary findings.
Wertheim-Tysarowska K et al.
Orphanet Journal of Rare Diseases, 2024
39501396 (PubMed )
Supplement: 13023_2024_3395_MOESM3_ESM.docx
Bullous diseases caused by KRT1 gene mutations: from epidermolytic hyperkeratosis to a novel variant of epidermolysis bullosa simplex.
Osipowicz K et al.
Postepy Dermatologii I Alergologii, 2021
Novel and recurrent mutations in keratin 1 cause epidermolytic ichthyosis and palmoplantar keratoderma.
Smith FJD et al.
Clinical and Experimental Dermatology, 2019
Keratin 1 gene mutation detected in epidermal nevus with epidermolytic hyperkeratosis.
Tsubota A et al.
The Journal of Investigative Dermatology, 2007
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
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