Two Novel Pathogenic Variants Confirm <i>RMND1</i> Causative Role in Perrault Syndrome with Renal Involvement
<i>RMND1</i> (required for meiotic nuclear division 1 homolog) pathogenic variants are known to cause combined oxidative phosphorylation deficiency (COXPD11), a severe multisystem disorder. In one patient, a homozygous <i>RMND1</i> pathogenic variant, with an established role...
| Main Authors: | , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
MDPI AG
2020-09-01
|
| Series: | Genes |
| Subjects: | |
| Online Access: | https://www.mdpi.com/2073-4425/11/9/1060 |