Hochberg I et al. Bi-allelic variants in the mitochondrial RNase P subunit PRORP cause mitochondrial tRNA processing defects and pleiotropic multisystem presentations. Am J Hum Genet. 2021;108(11):2195-2204. PMID: 34715011.
Faridi R et al. New insights into Perrault syndrome, a clinically and genetically heterogeneous disorder. Hum Genet. 2021. doi: 10.1007/s00439-021-02319-7. Epub ahead of print. PMID: 34338890.
PRORP