This section considers studies of change in the expression and regulation of genes and genomes by genetic and epigenetic mechanisms in relation to human health and disease states.
Novel biallelic variant in BBS9 causative of Bardet–Biedl syndrome: expanding the spectrum of disease-causing genetic alterations
Bardet–Biedl syndrome (BBS) is a rare autosomal recessive ciliopathy disorder. Many BBS disease-causing genetic variants have been identified due to the advancement of molecular diagnostic tools. We report on ...
Citation: BMC Medical Genomics 2021 14:91