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Article

Vertical nystagmus as a feature of PIGN-related glycosylphosphatidylinositol biosynthesis defects.

Clinical neurology and neurosurgery - 1 Sept 2020

Jezela-Stanek Aleksandra, Mierzewska Hanna, Szczepanik Elżbieta

Abstract excerpt

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 review, we have verified the clinical significance of this feature in PIGN-related disorder. We hope to underline the clinical implication of...

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Identifiers

PMID: 32585529
DOI: 10.1016/j.clineuro.2020.106033

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

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