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Article

A novel variant of the POLR3A gene in a patient with hypomyelinating POLR3-related leukodystrophy.

Clinica chimica acta; international journal of clinical chemistry - 1 Aug 2022

Yoon Han Ji, Gon Cho Yong, Park Joonhong, Jang Woori

Abstract excerpt

BACKGROUND: Hypomyelinating POLR3-related leukodystrophy is a group of rare neurological diseases characterized by degeneration of the white matter of the brain with different combinations of major clinical findings. Here we report the first Korean POLR3-related leukodystrophy caused by bi-allelic POLR3A c.1771-6C > G and novel c.1650_1661del variants. METHODS: An 18-month-old girl was admitted for evaluation of...

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Identifiers

PMID: 35691411
DOI: 10.1016/j.cca.2022.06.007

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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