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Bullous diseases caused by KRT1 gene mutations: from epidermolytic hyperkeratosis to a novel variant of epidermolysis bullosa simplex

INTRODUCTION: Mutations in the KRT1 gene encoding keratin 1 cause epidermolytic hyperkeratosis characterized by blistering in the neonatal period followed by ichthyotic hyperkeratosis in childhood and adolescent life. We observed a spectrum of clinical manifestations of blistering disorders caused b...

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Detalles Bibliográficos
Autores principales: Osipowicz, Katarzyna, Wertheim-Tysarowska, Katarzyna, Kwiek, Bartłomiej, Jankowska, Ewa, Gos, Monika, Charzewska, Agnieszka, Woźniak, Katarzyna, Kowalewski, Cezary
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Termedia Publishing House 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8802968/
https://www.ncbi.nlm.nih.gov/pubmed/35126011
http://dx.doi.org/10.5114/ada.2020.98564