A Known Pathogenic Variant in the Essential Mitochondrial Translation Gene RMND1 Causes a Perrault-Like Syndrome with Renal Defects

Demain, LAMAntunes, DO'Sullivan, JBhaskhar, SSO'Keefe, RTNewman, WG2020-05-222020-05-222018Clin Genet . 2018 Aug;94(2):276-277.http://hdl.handle.net/10400.17/3465engCell Cycle ProteinsFemaleGonadal Dysgenesis, 46,XXHearing Loss, SensorineuralHumansKidney DiseasesMitochondriaWhole Exome SequencingGenetic Predisposition to DiseaseHDE GENA Known Pathogenic Variant in the Essential Mitochondrial Translation Gene RMND1 Causes a Perrault-Like Syndrome with Renal Defectsjournal article10.1111/cge.13255