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

Research output: Contribution to journalArticlepeer-review

  • External authors:
  • D Antunes
  • S S Bhaskhar
  • W G Newman

Bibliographical metadata

Original languageEnglish
JournalClinical Genetics
Early online date19 Apr 2018
Publication statusPublished - 19 Apr 2018