Article

Mosaic and Generalized Forms of Keratinopathic Ichthyoses

2020-09-10

Abstract excerpt

Mutations in KRT1 (keratin 1) or KRT10 (keratin 10) underlie a spectrum of diseases known as keratinopathic ichthyoses. Epidermolytic ichthyosis (EI) is caused by heterozygous missense mutations in the genes KRT1 or KRT10, mutations in the gene KRT2 (keratin 2) lead to superficial epidermolytic ichthyosis, and congenital reticular ichthyosiform erythroderma is caused by frameshift mutations in the genes KRT10 or K...

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Literature Corpus work: 9ea5072e-b5e2-510f-9ea8-f7e8d5f520dc
DOI: 10.20944/preprints202009.0227.v1

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