| 1 | ERAL1, PRLTS6 |
| A homozygous missense mutation in ERAL1, encoding a mitochondrial rRNA chaperone, causes Perrault syndrome. | |
| Chatzispyrou IA, Alders M, Guerrero-Castillo S, Zapata Perez R, Haagmans MA, Mouchiroud L, Koster J, Ofman R, Baas F, Waterham HR, Spelbrink JN, Auwerx J, Mannens MM, Houtkooper RH, Plomp AS. | |
| Hum Mol Genet 26(13):2541-2550. doi: 10.1093/hmg/ddx152. 2017 | |