Tread carefully: A functional variant in the human NADPH oxidase 4 (NOX4) is not disease causing

N Michael, MM Juliet, GW Anne, R Lisa, H Joshua… – Molecular Genetics and …, 2018 Tread carefully: A functional variant in the human NADPH oxidase 4 (NOX4) is not disease causing… The skin demonstrated hyperkeratosis, parakeratosis and an absent granular layer. 2.2. WES and bioinformatics. DNA extracted from the blood of the proband, and her parents were subjected to WES, performed by Otogenetics.