A known pathogenic variant in the essential mitochondrial translation gene RMND1 causes a Perrault-like syndrome with renal defects

L A M Demain, D Antunes, J O'Sullivan, S S Bhaskhar, R T O'Keefe, W G Newman

Research output: Contribution to journalArticlepeer-review

38 Downloads (Pure)
Original languageEnglish
JournalClinical Genetics
Early online date19 Apr 2018
Publication statusPublished - 19 Apr 2018


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