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...

Descripción completa

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

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4613280/
https://www.ncbi.nlm.nih.gov/pubmed/26370990
http://dx.doi.org/10.3390/ijms160921791

Ejemplares similares