Homozygous ALOXE3 Nonsense Variant Identified in a Patient with Non-Bullous Congenital Ichthyosiform Erythroderma Complicated by Superimposed Bullous Majocchi’s Granuloma: The Consequences of Skin Barrier Dysfunction

Non-bullous congenital ichthyosiform erythroderma (NBCIE) is a hereditary disorder of keratinization caused by pathogenic variants in genes encoding enzymes important to lipid processing and terminal keratinocyte differentiation. Impaired function of these enzymes can cause pathologic epidermal scal...

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Detalles Bibliográficos
Autores principales: Wang, Tao, Xu, Chenchen, Zhou, Xiping, Li, Chunjia, Zhang, Hongbing, Lian, Bill Q., Lee, Jonathan J., Shen, Jun, Liu, Yuehua, Lian, Christine Guo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2015
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4613280/
https://www.ncbi.nlm.nih.gov/pubmed/26370990
http://dx.doi.org/10.3390/ijms160921791

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