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Expanding the Clinical and Genetic Spectrum of KRT1, KRT2 and KRT10 Mutations in Keratinopathic Ichthyosis

Hotz, A ; Oji, V ; Bourrat, E ; Jonca, N ; Mazereeuw-Hautier, J ; Betz, R ; Blume-Peytavi, U ; Stieler, K ; Morice-Picard, F ; Schönbuchner, I ; Markus, S ; Schlipf, N ; Fischer, J



Abstract

Twenty-six families with keratinopathic ichthyoses (epidermolytic ichthyosis, superficial epidermolytic ichthyosis or congenital reticular ichthyosiform erythroderma) were studied. Epidermolytic ichthyosis is caused by mutations in the genes KRT1 or KRT10, mutations in the gene KRT2 lead to superficial epidermolytic ichthyosis, and congenital reticular ichthyosiform erythroderma is caused by ...

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