Article

Cortical interneuron development is affected in leukodystrophy 4H

2022-08-22

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, also patients with atypical presentations with mainly a neuronal phenotype were identified. Pathomechanisms of 4H brain abnormalities a...

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Literature Corpus work: da6ca7b6-dc58-5f22-910f-47a707c5e4f5
DOI: 10.1101/2022.08.22.504736

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