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

Horizontal gaze palsy and progressive scoliosis due to a deleterious mutation in ROBO3.

Ophthalmic genetics - 1 Nov 2011

Abu-Amero Khaled K, Kapoor Seema, Hellani Ali, Monga Sumit, Bosley Thomas M

Abstract excerpt

PURPOSE: To describe a family with horizontal gaze palsy and progressive scoliosis with a deleterious mutation in the ROBO3 gene. METHODS: All family members had full ophthalmologic, neurologic, and orthopedic examinations and complete sequencing of the ROBO3 gene. RESULTS: Four affected members had complete loss of horizontal gaze with progressive scoliosis that varied between family members. ROBO3 sequencing...

Read the complete abstract on PubMed

Topics

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

Share to Consanguinity
Share to Magnetic Resonance Imaging
Share to Nystagmus, Congenital

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Ocular Motility Disorders

Share to Receptors, Cell Surface

Share to Receptors, Immunologic

Share to Scoliosis

Share to Sequence Deletion

Source

Identifiers

PMID: 21592015
DOI: 10.3109/13816810.2011.580445

Genes

ROBO3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Horizontal gaze palsy and progressive scoliosis due to a deleterious mutation in ROBO3.PMID 21592015Read ↗

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

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

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

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

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

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

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

A novel intronic variant in ROBO3 associated with horizontal gaze palsy with progressive scoliosis: case report and literature review.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: Two Novel ROBO3 Mutations in a Compound Heterozygous Sporadic Case.Semantic proximity Read ↗

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