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Article

Ophthalmic features of PLA2G6-related paediatric neurodegeneration with brain iron accumulation.

The British journal of ophthalmology - 1 Jul 2014

Khan Arif O, AlDrees Abdulmajeed, Elmalik Salah A, Hassan Hamdy H, Michel Michel, Stevanin Giovanni, Azzedine Hamid, Salih Mustafa A

Abstract excerpt

BACKGROUND: Neurodegeneration with brain iron accumulation (NBIA) refers to genetically heterogenous paediatric neurodegenerative disorders characterised by basal ganglia iron deposition. One major cause is recessive mutations in the PLA2G6 gene. While strabismus and optic nerve pallor have been...

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Source

Identifiers

PMID: 24522175
DOI: 10.1136/bjophthalmol-2013-304527

Genes

PANK2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-24522175-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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