Two Novel Pathogenic Variants Confirm RMND1 Causative Role in Perrault Syndrome with Renal Involvement

RMND1 (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 RMND1 pathogenic variant, with an established role in COXPD11, was associated with a Per...

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Detalles Bibliográficos
Autores principales: Oziębło, Dominika, Pazik, Joanna, Stępniak, Iwona, Skarżyński, Henryk, Ołdak, Monika
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7564844/
https://www.ncbi.nlm.nih.gov/pubmed/32911714
http://dx.doi.org/10.3390/genes11091060

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7564844/
https://www.ncbi.nlm.nih.gov/pubmed/32911714
http://dx.doi.org/10.3390/genes11091060

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