P042: Prolonged survival of a patient with combined oxidative phosphorylation deficiency 11 secondary to biallelic variants in the RMND1 gene

Autor: Fraustro, Milena, Badino, Maria, Diaz, Alejandro, Rodriguez Barreto, Ana Maria
Zdroj: In Genetics in Medicine Open 2024 2 Supplement 1
Databáze: ScienceDirect