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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Detaylı Bibliyografya
Yayımlandı:Int J Mol Sci
Asıl Yazarlar: Diociaiuti, Andrea, Castiglia, Daniele, Corbeddu, Marialuisa, Rotunno, Roberta, Rossi, Sabrina, Pisaneschi, Elisa, Cesario, Claudia, Condorelli, Angelo Giuseppe, Zambruno, Giovanna, El Hachem, May
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: MDPI 2020
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Article
Online Erişim: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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