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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Vydáno v:Int J Mol Sci
Hlavní autoři: Diociaiuti, Andrea, Castiglia, Daniele, Corbeddu, Marialuisa, Rotunno, Roberta, Rossi, Sabrina, Pisaneschi, Elisa, Cesario, Claudia, Condorelli, Angelo Giuseppe, Zambruno, Giovanna, El Hachem, May
Médium: Artigo
Jazyk:Inglês
Vydáno: MDPI 2020
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On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC7593923/
https://ncbi.nlm.nih.gov/pubmed/33081034
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/ijms21207707
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