Article
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.
International journal of molecular sciences - 9 Sept 2015
Wang Tao, Xu Chenchen, Zhou Xiping, Li Chunjia, Zhang Hongbing, Lian Bill Q, Lee Jonathan J, Shen Jun, Liu Yuehua, Lian Christine Guo
Abstract excerpt
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 scaling, significantly reduced skin barrier function. In this study, we have performed a focused, genetic analysis of a...
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