Arquivo
A known pathogenic variant in the essential mitochondrial translation gene RMND1 causes a Perrault-like syndrome with renal defects.
Demain LAM1,2, Antunes Diana3, O'Sullivan J1,2, Bhaskhar SS1,2, O'Keefe RT4, Newman WG1,2.
2023
Demain LAM1,2, Antunes Diana3, O'Sullivan J1,2, Bhaskhar SS1,2, O'Keefe RT4, Newman WG1,2.