Partial Loss of Function ABCA12 Mutations Generate Reduced Deposition of Glucosyl-Ceramide, Leading to Patchy Ichthyosis and Erythrodermia Resembling Erythrokeratodermia Variabilis et Progressiva (EKVP)

Ichthyoses are genetically determined cornification disorders of the epidermis characterized by the presence of different degrees of scaling, hyperkeratosis, and erythroderma often associated with palmoplantar keratoderma. Different classifications of these diseases have been proposed, often based u...

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Detalles Bibliográficos
Autores principales: Terrinoni, Alessandro, Sala, Gabriele, Bruno, Ernesto, Pitolli, Consuelo, Minieri, Marilena, Pieri, Massimo, Gambacurta, Alessandra, Campione, Elena, Belardi, Riccardo, Bernardini, Sergio
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10530436/
https://www.ncbi.nlm.nih.gov/pubmed/37762265
http://dx.doi.org/10.3390/ijms241813962

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