Genetic & Genomic MedicineThe American Journal of Human GeneticsPeer-reviewed
Loss of C2orf69 defines a fatal auto-inflammatory mitochondriopathy in Humans and Zebrafish
Hui Hui Wong, Sze Hwee Seet, Michael Maier…·Bruno Reversade
The paper identifies C2orf69 deficiency as a cause of a fatal auto-inflammatory syndrome in humans and zebrafish, affecting mitochondrial function and immune/cNS development.