GSE154199 RNA sequencing of KAT5 mutant patient-derived fibroblasts

In conclusion, dominant missense KAT5 variants cause histone acetylation deficiency with transcriptional dysregulation of multiples genes, thereby leading to a neurodevelopmental syndrome with sleep disturb ance, cerebellar atrophy and facial dysmorphisms suggesting a recognizable syndrome.
Source: GEO: Gene Expression Omnibus - Category: Genetics & Stem Cells Tags: Expression profiling by high throughput sequencing Homo sapiens Source Type: research