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Article

A novel intronic variant in ROBO3 associated with horizontal gaze palsy with progressive scoliosis: case report and literature review.

Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus - 1 Dec 2023

Sim Bryan, Ng Janice Wan Zhen, Sim Donald Yuhui, Goh Jeannette, Kam Sylvia, Teo Jing Xian, Lim Wan Wan, Lieviant Jane, Lim Weng Khong, Lim Su Ann, Tang Phua Hwee, Ling Simon, Ng Stacy Wei Ling, Roca Xavier, Jamuar Saumya Shekhar

Abstract excerpt

Horizontal gaze palsy with progressive scoliosis (HGPPS) is a rare, autosomal recessive inherited disorder caused by mutations in ROBO3 gene. The clinical features of HGPPS include horizontal gaze palsy, progressive scoliosis, other oculomotor abnormalities such as strabismus and nystagmus. Whole-exome sequencing (WES) is used to diagnose rare Mendelian disorders, when routine standard tests have failed to make a...

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Identifiers

PMID: 37931836
DOI: 10.1016/j.jaapos.2023.08.017

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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.

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