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Horizontal gaze palsy and progressive scoliosis-a tale of two siblings with ROBO3 mutation

Ophthalmic genetics, Vol. 41, Issue 1, Pages 99-100, 2020

PMID: 32077773

Horizontal gaze palsy with progressive scoliosis-1 (HGPPS1) is a rare autosomal recessive condition named after its clinical manifestations. HGPPS is due to ROBO3 mutation (OMIM number: 608630) and is characterized by brainstem maldevelopment which is responsible for its phenotypic presentation (1,2).

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