Novel homozygous variants in PRORP expand the genotypic spectrum of combined oxidative phosphorylation deficiency 54.
Smith TB, Rea A, Thomas HB, Thompson K, Oláhová M, Maroofian R, Zamani M, He L, Sadeghian S, Galehdari H, Lotan NS, Gilboa T, Herman KC, McCorvie TJ, Yue WW, Houlden H, Taylor RW, Newman WG, O'Keefe RT.
Smith TB, et al. Among authors: herman kc.
Eur J Hum Genet. 2023 Oct;31(10):1190-1194. doi: 10.1038/s41431-023-01437-2. Epub 2023 Aug 9.
Eur J Hum Genet. 2023.
PMID: 37558808
Free PMC article.