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Article

Cyclic ichthyosis with epidermolytic hyperkeratosis: A phenotype conferred by mutations in the 2B domain of keratin K1.

American journal of human genetics - 1 Mar 1999

Sybert V P, Francis J S, Corden L D, Smith L T, Weaver M, Stephens K, McLean W H

Abstract excerpt

Bullous congenital ichthyosiform erythroderma (BCIE) is characterized by blistering and erythroderma in infancy and by erythroderma and ichthyosis thereafter. Epidermolytic hyperkeratosis is a hallmark feature of light and electron microscopy. Here we report on four individuals from two families with a unique clinical disorder with histological findings of epidermolytic hyperkeratosis. Manifesting erythema and...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 10053007
DOI: 10.1086/302278
PMCID: PMC1377790

Provenance

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Source receipt: pubmed, retrieved 7 Sept 2026.

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