Publications by authors named "Aladin Redissi"
Article Synopsis
- Erythrokeratodermia variabilis (EKV) is a rare skin disorder linked to mutations in the GJB3 and GJB4 genes but can also occur due to other genetic mutations as seen in a consanguineous Tunisian family.
- Whole-exome sequencing identified a new homozygous mutation in the NIPAL4 gene in two sisters, suggesting it plays a critical role in this specific EKV phenotype.
- The younger sister displayed signs of Autosomal Recessive Congenital Ichthyosis, highlighting the variability of symptoms in EKV and reinforcing the importance of studying the NIPAL4 gene's impact on skin barrier function.
