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First Case of KRT2 Epidermolytic Nevus and Novel Clinical and Genetic Findings in 26 Italian Patients with Keratinopathic Ichthyoses

Keratinopathic ichthyoses (KI) are a clinically heterogeneous group of keratinization disorders due to mutations in KRT1, KTR10, or KRT2 genes encoding keratins of suprabasal epidermis. Characteristic clinical features include superficial blisters and erosions in infancy and progressive development...

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Detalles Bibliográficos
Autores principales: Diociaiuti, Andrea, Castiglia, Daniele, Corbeddu, Marialuisa, Rotunno, Roberta, Rossi, Sabrina, Pisaneschi, Elisa, Cesario, Claudia, Condorelli, Angelo Giuseppe, Zambruno, Giovanna, El Hachem, May
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7593923/
https://www.ncbi.nlm.nih.gov/pubmed/33081034
http://dx.doi.org/10.3390/ijms21207707