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Article

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

BMC medical genetics - 25 Jul 2015

Battini Roberta, Bertelloni Silvano, Astrea Guja, Casarano Manuela, Travaglini Lorena, Baroncelli Giampiero, Pasquariello Rosa, Bertini Enrico, Cioni Giovanni

Abstract excerpt

BACKGROUND: The 4H syndrome (hypomyelination, hypodontia, hypogonadotropic hypogonadism) is a newly recognized leukodystrophy. The classical form is characterized by the association of hypomyelination, abnormal dentition, and hypogonadotropic hypogonadism, but the recent identification of two genes (POLR3A and POLR3B) responsible for the syndrome demonstrates that these three main characteristics can be variably...

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Identifiers

PMID: 26204956
DOI: 10.1186/s12881-015-0203-0
PMCID: PMC4557838

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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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Longitudinal follow up of a boy affected by Pol III-related leukodystrophy: a detailed phenotype description.PMID 26204956Read ↗

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