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Biallelic variants in OGDH encoding oxoglutarate dehydrogenase lead to a neurodevelopmental disorder characterized by global developmental delay, movement disorder, and metabolic abnormalities. (2023)

First Author: Whittle EF

Attributed to: Elucidating the genetic background of rare neurological diseases: with a focus on paediatric mitochondrial disorders 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