Associated Papers
The Genomic and Phenotypic Landscape of Ichthyosis: An Analysis of 1000 Kindreds.
Sun Q et al.
Jama Dermatology, 2022
Revertant mosaicism in genodermatoses.
Lim YH et al.
Cellular and Molecular Life Sciences : Cmls, 2017
Frequent somatic reversion of KRT1 mutations in ichthyosis with confetti.
Choate KA et al.
The Journal of Clinical Investigation, 2015
Molecular and diagnostic aspects of genetic skin fragility.
Has C et al.
Journal of Dermatological Science, 2006
A novel mutation and large size polymorphism affecting the V2 domain of keratin 1 in an African-American family with severe, diffuse palmoplantar keratoderma of the ichthyosis hystrix Curth-Macklin type.
Richardson ES et al.
The Journal of Investigative Dermatology, 2006
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
Atypical epidermolytic palmoplantar keratoderma presentation associated with a mutation in the keratin 1 gene.
Terron-Kwiatkowski A et al.
The British Journal of Dermatology, 2004
Epidermolytic hyperkeratosis and epidermolysis bullosa simplex caused by frameshift mutations altering the v2 tail domains of keratin 1 and keratin 5.
Sprecher E et al.
The Journal of Investigative Dermatology, 2003
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