Article
Horizontal gaze palsy with progressive scoliosis (HGPPS): expanding ROBO3 molecular spectrum and refining clinical-neuroimaging phenotypes.
European journal of medical genetics - 1 May 2026
Shams Nosrati Mohammad Sadegh, Romano Ferruccio, Dostmohammadi Alireza, Traverso Monica, Nemati Amir Hesam, Madia Francesca, De Marco Patrizia, Doustmohammadi Morteza, Iacomino Michele, Tavassol Zahra Hoseini, Boogari Mahsa, Khorasanian Reihaneh, Omrani Mir Davood, Zara Federico, Scala Marcello, Capra Valeria
Abstract excerpt
Horizontal gaze palsy with progressive scoliosis (HGPPS) is a rare autosomal recessive disorder caused by biallelic ROBO3 variants, characterized by congenital horizontal gaze restriction, early-onset scoliosis, and distinctive hindbrain malformations. We report two pediatric Patients and integrate current evidence to expand the ROBO3 variant spectrum and refine phenotypic delineation. Detailed clinical...
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