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Article

Horizontal gaze palsy with progressive scoliosis: three novel ROBO3 mutations and descriptions of the phenotypes of four patients.

Molecular vision - 1 Jan 2011

Volk Alexander E, Carter Oliver, Fricke Julia, Herkenrath Peter, Poggenborg Jörg, Borck Guntram, Demant Andre W, Ivo Roland, Eysel Peer, Kubisch Christian, Neugebauer Antje

Abstract excerpt

PURPOSE: Clinical and molecular characterization of patients with horizontal gaze palsy with progressive scoliosis (HGPPS) to extend existing knowledge of the phenotype caused by mutations in the Roundabout homolog of Drosophila 3 (ROBO3) gene. METHODS: Four patients (aged 6 months to 13 years), two of them siblings, with features of horizontal gaze palsy and their parents were examined clinically and by...

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Source

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Identifiers

PMID: 21850172
PMCID: PMC3154129

Genes

ROBO3

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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