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Horizontal Gaze Palsy with Progressive Scoliosis (HGPPS) in a Consanguineous Family: A Case Report

Year: 2025

Type: article

Abstract: Horizontal gaze palsy with progressive scoliosis is a rare autosomal recessive disorder caused by biallelic variants in ROBO3, a gene essential for commissural axon crossing in the hindbrain and spinal cord.It is characterized by the congenital absence of horizontal eye movements and progressive scoliosis, typically presenting in childhood or adolescence.

Source: Forbes Journal of Medicine

DOI: 10.4274/forbes.galenos.2025.77045

Authors: Dilara Ece TOPRAK, Gözde Merve TEKEL, Yusuf Can DOĞAN, Esra IŞIK, Atilla Hikmet ÇİLENGİR

Language: English

Topic: Axon Guidance and Neuronal Signaling

Subfield: Cellular and Molecular Neuroscience

Field: Neuroscience

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: diamond

OpenAlex ID: W4417033090

FWCI:

Cites: 6

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Related to: 10