Published Date: April 20, 2018

Full Text Article

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

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

Clin Genet. 2018 Aug;94(2):276-277. doi: 10.1111/cge.13255. Epub 2018 Apr 19.


PMID: 29671881DOI: 10.1111/cge.13255