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Article

The distinct optic disk and peripapillary appearance in Donnai-Barrow syndrome.

Ophthalmic genetics - 1 Jun 2018

Khan Arif O, Ghazi Nicola G

Abstract excerpt

INTRODUCTION: Biallelic mutations in low-density lipoprotein-related protein 2 (LRP2) cause the multi-system Donnai-Barrow syndrome (facio-oculo-acoustico-renal syndrome). Although Donnai-Barrow syndrome is recognized as a form of vitreo-retinopathy, the ocular phenotype has not been well defined. The purpose of this study is to document the disk and peripapillary appearance in Donnai-Barrow syndrome. METHODS:...

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Source

Identifiers

PMID: 29388841
DOI: 10.1080/13816810.2018.1430245

Genes

LRP2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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