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Leigh syndrome with developmental regression and ataxia due to a novel splicing variant in the PMPCB gene. (2024)

First Author: Matthews E

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/10.1038/s10038-024-01226-9

PubMed Identifier: 38374165

Publication URI: http://europepmc.org/abstract/MED/38374165

Type: Journal Article/Review

Volume: 69

Parent Publication: Journal of human genetics

Issue: 6

ISSN: 1434-5161