Bi-allelic variants in the mitochondrial RNase P subunit PRORP cause mitochondrial tRNA processing defects and pleiotropic multisystem presentations
Hochberg, Irit, Demain, Leigh A.M., Richer, Julie, Thompson, Kyle, Urquhart, Jill E., Rea, Alessandro, Pagarkar, Waheeda, Rodríguez-Palmero, Agustí, Schlüter, Agatha, Verdura, Edgard, Pujol, Aurora, Quijada-Fraile, Pilar, Amberger, Albert, Deutschmann, Andrea J., Demetz, Sandra, Gillespie, Meredith, Belyantseva, Inna A., McMillan, Hugh J., Barzik, Melanie, Beaman, Glenda M., Motha, Reeya, Ng, Kah Ying, O’Sullivan, James, Williams, Simon G., Bhaskar, Sanjeev S., Lawrence, Isabella R., Jenkinson, Emma M., Zambonin, Jessica L., Blumenfeld, Zeev, Yalonetsky, Sergey, Oerum, Stephanie, Rossmanith, Walter, Yue, Wyatt W., Zschocke, Johannes, Munro, Kevin J., Battersby, Brendan J., Friedman, Thomas B., Taylor, Robert W., O’Keefe, Raymond T., Newman, William G.
Published in American journal of human genetics (04.11.2021)
Published in American journal of human genetics (04.11.2021)
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Journal Article
A homozygous variant in mitochondrial RNase P subunit PRORP is associated with Perrault syndrome characterized by hearing loss and primary ovarian insufficiency
Hochberg, Irit, Leigh Ann Mary Demain, Urquhart, Jill E, Amberger, Albert, Deutschmann, Andrea J, Demetz, Sandra, Thompson, Kyle, O'sullivan, James, Belyantseva, Inna A, Barzik, Melanie, Williams, Simon G, Bhaskar, Sanjeev S, Jenkinson, Emma M, Alsheqaih, Nada, Blumenfeld, Zeev, Yalonetsky, Sergey, Oerum, Stephanie, Rossmanith, Walter, Yue, Wyatt W, Zschocke, Johannes, Taylor, Robert W, Friedman, Thomas B, Munro, Kevin J, O'keefe, Raymond T, Newman, William G
Published in bioRxiv (25.07.2017)
Published in bioRxiv (25.07.2017)
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