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Article

Horizontal gaze palsy and progressive scoliosis without ROBO3 mutations.

Ophthalmic genetics - 1 Nov 2011

Abu-Amero Khaled K, Faletra Flavio, Gasparini Paolo, Parentin Fulvio, Pensiero Stefano, Alorainy Ibrahim A, Hellani Ali M, Catalano Dario, Bosley Thomas M

Abstract excerpt

BACKGROUND: To describe clinical and genetic observations in a patient with horizontal gaze palsy and progressive scoliosis (HGPPS) without identified mutations in the ROBO3 gene. MATERIALS AND METHODS: Neurologic and orthopedic evaluation of the proband; sequencing all exons, exon-intron boundaries, and promoter region of ROBO3 in the proband and his mother. Array CGH was also carried out in the proband and his...

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Source

Identifiers

PMID: 21510772
DOI: 10.3109/13816810.2011.574186

Genes

ROBO3
HOXA1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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