Vertical nystagmus as a feature of PIGN-related glycosylphosphatidylinositol biosynthesis defects
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DOI: 10.1016/j.clineuro.2020.106033
Abstract: Vertical nystagmus is a known clinical feature, is however rarely observed in a specific neurodevelopmental disorder. Based on our experience with Polish patients with glycosylphosphatidylinositol biosynthesis defects (GPIBD) due to PIGN variants, supported by literature… read more here.
Keywords: glycosylphosphatidylinositol biosynthesis; pign; vertical nystagmus; feature pign ... See more keywords