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Article

Whole genome sequencing of 10 families with optic disc drusen.

Ophthalmic genetics - 1 Apr 2025

Steensberg Alvilda H, Ovens Chris, Fraser Clare L, Malmqvist Lasse, Bertelsen Mette, Grønskov Karen, Hamann Steffen

Abstract excerpt

INTRODUCTION: Optic disc drusen (ODD) are believed to have a genetic predisposition, with autosomal dominant inheritance pattern with incomplete penetrance suggested through family pedigree analysis. ODD prevalence is higher in certain genetic disorders, such as pseudoxanthoma elasticum and retinitis pigmentosa. This study aimed to identify candidate genes potentially involved in the development of ODD. METHODS:...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Share to Tomography, Optical Coherence

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Source

Identifiers

PMID: 39865650
DOI: 10.1080/13816810.2025.2450469

Genes

ABCC6
DDX50
KRT3
LBR
PLCB4
PTPRQ
RP1L1
TREX1

Provenance

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