A de novo mutation of KRT1 in a baby girl causing epidermolytic ichthyosis with impressive epidermolytic palmoplantar keratoderma
Copyright policy )A de novo mutation of KRT1 in a baby girl causing epidermolytic ichthyosis with impressive epidermolytic palmoplantar keratoderma
We report a 6-year-old girl showing epidermolytic ichthyosis/epidermolytic hyperkeratosis (EI/EH). Targeted Next Generation Sequencing revealed a de novo, previously unidentified KRT1 mutation. The findings of this study expands the clinical and spectrum and genotype-phenotype correlation associated with EI/EH.
Hyperkeratosis, Epidermolytic, Foot, High-Throughput Nucleotide Sequencing, Dermatology, General Medicine, epidermolytic ichthyosis, palmoplantar keratoderma, Hand, NGS, Keratoderma, Palmoplantar, Epidermolytic, Mutation, KRT1, Humans, Female, Child, Keratin-1
Hyperkeratosis, Epidermolytic, Foot, High-Throughput Nucleotide Sequencing, Dermatology, General Medicine, epidermolytic ichthyosis, palmoplantar keratoderma, Hand, NGS, Keratoderma, Palmoplantar, Epidermolytic, Mutation, KRT1, Humans, Female, Child, Keratin-1
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