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Article

Cortical interneuron development is affected in 4H leukodystrophy.

Brain : a journal of neurology - 3 Jul 2023

Dooves Stephanie, Kok Liza M L, Holmes Dwayne B, Breeuwsma Nicole, Breur Marjolein, Bugiani Marianna, Wolf Nicole I, Heine Vivi M

Abstract excerpt

4H leukodystrophy is a rare genetic disorder classically characterized by hypomyelination, hypodontia and hypogonadotropic hypogonadism. With the discovery that 4H is caused by mutations that affect RNA polymerase III, mainly involved in the transcription of small non-coding RNAs, patients with atypical presentations with mainly a neuronal phenotype were also identified. Pathomechanisms of 4H brain abnormalities...

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Identifiers

PMID: 36729681
DOI: 10.1093/brain/awad017
PMCID: PMC10316783

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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