In this article, the author updates information on cerebro-oculo-facio-skeletal (COFS) syndrome. The condition is rare, with autosomal recessive inheritance, and manifests abnormal facies, ocular changes (eg, cataracts, retinal degeneration, microcornea, optic atrophy), in utero and postnatal growth retardation, severe psychomotor retardation, cerebral and cerebellar degeneration with calcifica...

We investigated the question if CSB (Cockayne Syndrome complementation B) protein actively regulates gene transcription and how mutations in CSB gene affect that regulatory role. Here we describe how we processed and interpreted ChIP-seq data (deposited in Gene Expression Omnibus with accession number GSE50171) obtained during an investigation of that question, and how this analysis assisted in...