Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Early-onset or rapidly progressive scoliosis in children: check the eyes!

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society - 1 Nov 2013

Kurian M, Megevand C, De Haller R, Merlini L, Boex C, Truffert A, Kaelin A, Burglen L, Korff C M

Abstract excerpt

Horizontal gaze palsy with progressive scoliosis (HGPPS) is a rare autosomal recessive disorder characterized by the absence of conjugate horizontal eye movements, and progressive scoliosis developing in childhood and adolescence, caused by mutations in the ROBO3 gene which has an important role in axonal guidance and neuronal migration. We describe two female children aged 12 years and 18 months, with...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Diffusion Magnetic Resonance Imaging
Share to Magnetic Resonance Imaging

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Medulla Oblongata

Share to Ocular Motility Disorders

Share to Receptors, Cell Surface

Share to Receptors, Immunologic

Share to Scoliosis

Source

Identifiers

PMID: 23810770
DOI: 10.1016/j.ejpn.2013.05.011

Genes

ROBO3

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.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Early-onset or rapidly progressive scoliosis in children: check the eyes!PMID 23810770Read ↗

Neurologic features of horizontal gaze palsy and progressive scoliosis with mutations in ROBO3.Semantic proximity Read ↗

Mutation in ROBO3 Gene in Patients with Horizontal Gaze Palsy with Progressive Scoliosis Syndrome: A Systematic Review.Semantic proximity Read ↗

Horizontal gaze palsy with progressive scoliosis: Further expanding the ROBO3 spectrum.Semantic proximity Read ↗

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

Horizontal gaze palsy with progressive scoliosis (HGPPS): expanding ROBO3 molecular spectrum and refining clinical-neuroimaging phenotypes.Semantic proximity Read ↗

Allelic ROBO3 heterogeneity in Tunisian patients with horizontal gaze palsy with progressive scoliosis.Semantic proximity Read ↗

Horizontal gaze palsy and progressive scoliosis-a tale of two siblings with ROBO3 mutation.Semantic proximity Read ↗

Horizontal gaze palsy and progressive scoliosis without ROBO3 mutations.Semantic proximity Read ↗

Horizontal gaze palsy with progressive scoliosis can result from compound heterozygous mutations in ROBO3.Semantic proximity Read ↗

A novel mutation of ROBO3 in horizontal gaze palsy with progressive scoliosis.Semantic proximity Read ↗

Horizontal Gaze Palsy With Progressive Scoliosis: Two Novel ROBO3 Mutations in a Compound Heterozygous Sporadic Case.Semantic proximity Read ↗

Five new consanguineous families with horizontal gaze palsy and progressive scoliosis and novel ROBO3 mutations.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.