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Article

Phenotypic spectrum of POLR3B mutations: isolated hypogonadotropic hypogonadism without neurological or dental anomalies.

Journal of medical genetics - 1 Jan 2017

Richards Mary R, Plummer Lacey, Chan Yee-Ming, Lippincott Margaret F, Quinton Richard, Kumanov Philip, Seminara Stephanie B

Abstract excerpt

BACKGROUND: A constellation of neurodegenerative disorders exists (Gordon Holmes syndrome, 4H leucodystrophy, Boucher-Neuhauser syndrome) in which patients suffer from both neurological disease (typically manifested by ataxia) and reproductive failure (idiopathic hypogonadotropic hypogonadism (IHH)). POLR3B, which encodes the second largest subunit of RNA polymerase III (pol III), and POLR3A, which forms the pol...

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Identifiers

PMID: 27512013
DOI: 10.1136/jmedgenet-2016-104064
PMCID: PMC5189673

Genes

IHH

Provenance

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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