Bi-allelic missense variants in oxoglutarate dehydrogenase (OGDH) lead to a neurodevelopmental disorder characterised by hypotonia, developmental delay and metabolic abnormalities

Ella Whittle,Madison Chilian,Helga Progri, Eshan Ghayoor Karimiani,Daniela Buhas,Ivan Shelihan, Roberto Colombo,Alessandro Serretti,Hui Yang,Sukyeong Lee,Alan M. Pittman,Reza Maroofian, Wan-Hee Yoon, Christopher J. Carroll

EUROPEAN JOURNAL OF HUMAN GENETICS(2022)

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