Article
Horizontal gaze palsy with progressive scoliosis: Further expanding the ROBO3 spectrum.
Annals of clinical and translational neurology - 1 Aug 2024
Günbey Ceren, Çavdarlı Büşranur, Göçmen Rahşan, Yazıcı Muharrem, Temuçin Çağrı Mesut, Özdemir Özkan, Çırak Sebahattin, Haliloğlu Göknur
Abstract excerpt
OBJECTIVE: Horizontal gaze palsy with progressive scoliosis (HGPPS) is a rare, autosomal recessive disorder resulting from axonal midline crossing defect due to variants in ROBO3. METHODS: We retrospectively evaluated demographics, clinical phenotype, course of spinal deformities, and neuroimaging findings of six Turkish patients with HGPPS. We performed targeted gene testing by next-generation sequencing....
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