A case of annular epidermolytic ichthyosis resulting from a de novo mutation, p.I479T, in Keratin 1 Gene
We report a case of annular epidermolytic ichthyosis (AEI) resulting from de novo keratin 1 gene mutation. AEI is a rare autosomal dominantly inherited cornification disorder and is a distinct phenotypic variant of bullous congenital ichthyosiform erythroderma. Blisters and erosions in AEI are wides...
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Wolters Kluwer Medknow Publications,
2021-01-01T00:00:00Z.
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A1234.567 |
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