Biallelic variants in OGDH encoding oxoglutarate dehydrogenase lead to a neurodevelopmental disorder characterized by global developmental delay, movement disorder, and metabolic abnormalities. (2023)
Attributed to:
MRC Strategic Award to establish an International Centre for Genomic Medicine in Neuromuscular Diseases
funded by
MRC
Abstract
No abstract provided
Bibliographic Information
Digital Object Identifier: http://dx.doi.org/10.1016/j.gim.2022.11.001
PubMed Identifier: 36520152
Publication URI: http://europepmc.org/abstract/MED/36520152
Type: Journal Article/Review
Volume: 25
Parent Publication: Genetics in medicine : official journal of the American College of Medical Genetics
Issue: 2
ISSN: 1098-3600