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

Authors: Wang, Tao, Xu, Chenchen, Zhou, Xiping, Li, Chunjia, Zhang, Hongbing, Lian, Bill Q., Liu, Yuehua, Lee, Jonathan J., Shen, Jun, Lian, Christine

Source: Wang, Tao, Chenchen Xu, Xiping Zhou, Chunjia Li, Hongbing Zhang, Bill Q. Lian, Jonathan J. Lee, Jun Shen, Yuehua Liu, and Christine Guo Lian. 2015. “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 16 (9): 21791-21801. doi:10.3390/ijms160921791. http://dx.doi.org/10.3390/ijms160921791.

Subject Terms: autosomal recessive congenital ichthyosis (ARCI), non-bullous congenital ichthyosiformerythroderma (NBCIE), Whole Exon Sequencing (WES), arachidonatelipoxygenase 3 (ALOXE3), peroxisome proliferator-activated receptor α (PPARα)

File Description: application/pdf

Relation: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4613280/pdf/; International Journal of Molecular Sciences

Access URL: http://nrs.harvard.edu/urn-3:HUL.InstRepos:23473906