Carregant...

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...

Descripció completa

Guardat en:
Dades bibliogràfiques
Autors principals: Sybert, V P, Francis, J S, Corden, L D, Smith, L T, Weaver, M, Stephens, K, McLean, W H
Format: Artigo
Idioma:Inglês
Publicat: 1999
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC1377790/
https://ncbi.nlm.nih.gov/pubmed/10053007
Etiquetes: Afegir etiqueta
Sense etiquetes, Sigues el primer a etiquetar aquest registre!