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

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 wit...

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Bibliografische gegevens
Hoofdauteurs: Sybert, V P, Francis, J S, Corden, L D, Smith, L T, Weaver, M, Stephens, K, McLean, W H
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: 1999
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Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC1377790/
https://ncbi.nlm.nih.gov/pubmed/10053007
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