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Article

Gordon Holmes syndrome: finally genotype meets phenotype.

Practical neurology - 1 Dec 2017

Mehmood Shahid, Hoggard Nigel, Hadjivassiliou Marios

Abstract excerpt

We describe a patient with Gordon Holmes syndrome presenting with a combination of hypogonadotropic hypogonadism, ataxia and progressive cognitive decline, with distinct MRI brain findings. Recent genetic advances allowed the identification of the genetic defects responsible for this rather unusual combination of endocrine and neurological involvement.

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Identifiers

PMID: 28972031
DOI: 10.1136/practneurol-2017-001674

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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