Bi-allelic variants in the mitochondrial RNase P subunit PRORP cause mitochondrial tRNA processing defects and pleiotropic multisystem presentations

American journal of human genetics

Irit Hochberg, Leigh A M Demain, Julie Richer, …, Robert W Taylor, Raymond T O’Keefe, William G Newman

• DOI: 10.1016/j.ajhg.2021.10.002
• PMID: 34715011
• PMCID: PMC8595931