"Many neurodevelopmental defects are linked to perturbations in genes involved in housekeeping functions, such as those encoding ribosome biogenesis factors. However, how reductions in ribosome biogenesis can result in tissue and developmental specific defects remains a mystery. Here we describe new allelic variants in the ribosome biogenesis factor AIRIMprimarily associated with neurodevelopmental disorders."
#Preprint #neuroscience

https://www.biorxiv.org/content/10.1101/2024.01.09.574708v1?rss=1