DHCR7 and Smith-Lemli-Opitz syndrome: Our results support the hypothesis that the significant changes observed using enrichment analysis, plus documentation of differentially expressed signature genes, would provide new information regarding the etiology and disease course of SLOS, in terms of the relationship between the genotype (loss of function of DHCR7) and phenotype (the results of changes in the transcriptome) of this disease at the molecular level.