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Article

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

Journal of pediatric ophthalmology and strabismus - 28 May 2014

Pina Susana, Pedrosa Catarina, Feijóo Bernardo, Machado Sara, Prieto Isabel, Costa Cristina, Santos Maria João

Abstract excerpt

The authors report the case of a child with horizontal gaze palsy with progressive scoliosis and keratoconus. ROBO3 analysis identified compound heterozygous mutations. Keratoconus surgical approach resulted in visual acuity improvement in both eyes. The previously unreported occurrence of keratoconus with horizontal gaze palsy with progressive scoliosis suggests that ophthalmologic assessment should search for...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 26465116
DOI: 10.3928/01913913-20140521-01

Genes

ROBO3

Provenance

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Horizontal Gaze Palsy With Progressive Scoliosis and Severe Keratoconus With a Compound Heterozygous Mutation in ROBO3.PMID 26465116Read ↗

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

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

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

Horizontal Gaze Palsy With Progressive Scoliosis: Two Novel ROBO3 Mutations in a Compound Heterozygous Sporadic Case.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 and progressive scoliosis due to a deleterious mutation 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 and progressive scoliosis without ROBO3 mutations.Semantic proximity Read ↗

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

Horizontal Gaze Palsy in Two Brothers with Compound Heterozygous ROBO3 Gene Mutations.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 (HGPPS): expanding ROBO3 molecular spectrum and refining clinical-neuroimaging phenotypes.Semantic proximity Read ↗

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