Exploiting in silico structural analysis to introduce emerging genotype –phenotype correlations in DHCR24-related sterol biosynthesis disorder: a case study

This report expands the clinical and molecular spectra of the DHCR24-related disorder, reports on a novel DHCR24 deleterious variant associated with desmosterolosis, and gives new insights into genotype–phenotype correlations.
Source: Frontiers in Genetics - Category: Genetics & Stem Cells Source Type: research