A novel homozygous splice site variant in CERS3 causes autosomal recessive congenital ichthyosis.

Abstract

The authors have no conflicts of interest to declare. Data are available on request from the authors. Figure S1: Pedigree of family segregating autosomal recessive congenital ichthyosis haplotypes of the closely linked locus-specific microsatellite markers under each genotyped member. The cytogenetic position is represented in centimorgan (cM). Black symbols depict affected members whereas blank symbols represent normal members of the family. Table S1: Description and Pathogenicity Prediction of Identified variant (c.466-1G>A) Please note: The publisher is not responsible for the content or functionality of any supporting information supplied by the authors. Any queries (other than missing content) should be directed to the corresponding author for the article.