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Article

4H syndrome with late-onset growth hormone deficiency caused by POLR3A mutations.

Archives of neurology - 1 Jul 2012

Potic Ana, Brais Bernard, Choquet Karine, Schiffmann Raphael, Bernard Geneviève

Abstract excerpt

OBJECTIVE: To report a novel clinical and genetic presentation of a patient with 4H syndrome, which is a recently described leukodystrophy syndrome characterized by ataxia, hypomyelination, hypodontia, and hypogonadotropic hypogonadism. DESIGN: Case report. SETTING: University teaching hospital....

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Source

Identifiers

PMID: 22451160
DOI: 10.1001/archneurol.2011.1963

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-22451160-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

Related research

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Click a neighbor to travelStep 1 · 12 closest

4H syndrome with late-onset growth hormone deficiency caused by POLR3A mutations.PMID 22451160Read ↗

Clinical spectrum of 4H leukodystrophy caused by POLR3A and POLR3B mutations.Semantic proximity Read ↗

Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C.Semantic proximity Read ↗

Longitudinal follow up of a boy affected by Pol III-related leukodystrophy: a detailed phenotype description.Semantic proximity Read ↗

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

A novel variant of the POLR3A gene in a Chinese patient with POLR3-related leukodystrophy.Semantic proximity Read ↗

Mutations of POLR3A encoding a catalytic subunit of RNA polymerase Pol III cause a recessive hypomyelinating leukodystrophy.Semantic proximity Read ↗

Phenotypic spectrum of POLR3B mutations: isolated hypogonadotropic hypogonadism without neurological or dental anomalies.Semantic proximity Read ↗

[Hypogonadotropic hypogonadism due to pathogenic variants in the POLR3B gene].Semantic proximity Read ↗

Recessive mutations in POLR3B, encoding the second largest subunit of Pol III, cause a rare hypomyelinating leukodystrophy.Semantic proximity Read ↗

Novel compound heterozygous mutations of POLR3A revealed by whole-exome sequencing in a patient with hypomyelination.Semantic proximity Read ↗

Case report: Biallelic variants in POLR3B gene lead to 4H leukodystrophy from the study of brother and sister.Semantic proximity Read ↗

Recessive Mutations in POLR3B Encoding RNA Polymerase III Subunit Causing Diffuse Hypomyelination in Patients with 4H Leukodystrophy with Polymicrogyria and Cataracts.Semantic proximity Read ↗

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