Two Novel Pathogenic Variants Confirm <i>RMND1</i> Causative Role in Perrault Syndrome with Renal Involvement

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...

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Bibliographic Details
Main Authors: Dominika Oziębło, Joanna Pazik, Iwona Stępniak, Henryk Skarżyński, Monika Ołdak
Format: Article
Language:English
Published: MDPI AG 2020-09-01
Series:Genes
Subjects:
<i>RMND1</i> (required for meiotic nuclear division 1 homolog)
Perrault syndrome
renal disease
hearing loss
ovarian dysfunction
COXPD11 (combined oxidative phosphorylation deficiency)
Online Access:https://www.mdpi.com/2073-4425/11/9/1060

Internet

https://www.mdpi.com/2073-4425/11/9/1060

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