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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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