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

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

International journal of environmental research and public health - 22 Jun 2020

Pinero-Pinto Elena, Pérez-Cabezas Verónica, Tous-Rivera Cristina, Sánchez-González José-María, Ruiz-Molinero Carmen, Jiménez-Rejano José-Jesús, Benítez-Lugo María-Luisa, Sánchez-González María Carmen

Abstract excerpt

Horizontal gaze palsy with progressive scoliosis (HGPPS) is a rare, inherited disorder characterized by a congenital absence of conjugate horizontal eye movements with progressive scoliosis developing in childhood and adolescence. Mutations in the Roundabout (ROBO3) gene located on chromosome 11q23-25 are responsible for the development of horizontal gaze palsy and progressive scoliosis. However, some studies...

Read the complete abstract on PubMed

Topics

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

Share to Adolescent
Share to Child

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Mutation

Share to Ocular Motility Disorders

Share to Ophthalmoplegia, Chronic Progressive External

Share to Receptors, Cell Surface

Share to Receptors, Immunologic

Share to Scoliosis

Source

Open in PubMed Open full text

Identifiers

PMID: 32580277
DOI: 10.3390/ijerph17124467
PMCID: PMC7345006

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.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Mutation in ROBO3 Gene in Patients with Horizontal Gaze Palsy with Progressive Scoliosis Syndrome: A Systematic Review.PMID 32580277Read ↗

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: Further expanding the ROBO3 spectrum.Semantic proximity Read ↗

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

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

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

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

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

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

Horizontal Gaze Palsy With Progressive Scoliosis and Severe Keratoconus With a Compound Heterozygous Mutation in ROBO3.Semantic proximity Read ↗

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

Horizontal gaze palsy and progressive scoliosis due to a deleterious mutation in ROBO3.Semantic proximity Read ↗

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

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