Publication PMID: 36520152

Whittle EF, Chilian M, Karimiani EG, Progri H, Buhas D, Kose M, Ganetzky RD, Toosi MB, Torbati PN, Badv RS, Shelihan I, Yang H, Elloumi HZ, Lee S, Jamshidi Y, Pittman AM, Houlden H, Ignatius E, Rahman S, Maroofian R, Yoon WH, Carroll CJ. Biallelic variants in OGDH encoding oxoglutarate dehydrogenase lead to a neurodevelopmental disorder characterized by global developmental delay, movement disorder, and metabolic abnormalities. Genet Med, 2022 December, PMID: 36520152, PMCID: PMC9905285