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Article

4H leukodystrophy caused by a homozygous POLR3B mutation: Further delineation of the phenotype.

American journal of medical genetics. Part A - 1 Jul 2020

Verberne Eline A, Dalen Meurs Lotje, Wolf Nicole I, van Haelst Mieke M

Abstract excerpt

4H leukodystrophy, also known as Pol III-related leukodystrophy, is a rare autosomal recessive neurodegenerative disorder characterized by hypomyelination, hypodontia, and hypogonadotropic hypogonadism. It is caused by biallelic mutations in POLR3A, POL3RB, or POLR1C. So far, only two patients have been described with homozygosity for the common c.1568T>A (p.Val523Glu) POLR3B mutation, both of them showing a...

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Identifiers

PMID: 32319736
DOI: 10.1002/ajmg.a.61600
PMCID: PMC7318643

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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4H leukodystrophy caused by a homozygous POLR3B mutation: Further delineation of the phenotype.PMID 32319736Read ↗

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