The molecular basis of inherited disorders of keratinization.
Inherited disorders of keratinization can result in a wide variety of clinical features. The skin is usually affected with blistering or ichthyosis, but other body systems may be involved. The severity of these disorders varies greatly. This article reviews the advances in the molecular pathology of these disorders, and shows how this has benefited our understanding of cell biology.
Dunnill
M G
MG
Department of Dermatology, Bristol Royal Infirmary.
D004847:Epithelial Cells / Q000473:pathology; D015870:Gene Expression; D005796:Genes; D006801:Humans; D007057:Ichthyosis / Q000235:genetics / Q000473:pathology*; D015603:Keratinocytes / Q000648:ultrastructure; D007633:Keratins / Q000235:genetics / Q000648:ultrastructure; D009154:Mutation; D010641:Phenotype
D007633:Keratins