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Updated: Jun 10, 2026

Assessing Early Stage Open-Angle Glaucoma in Patients by Isolated-Check Visual Evoked Potential
Published on: May 25, 2020
Array-CGH analysis of a cohort of 86 patients with oculoauriculovertebral spectrum
Caroline Rooryck1, Noui Souakri, Dorothée Cailley
1Laboratoire de Génétique Humaine (EA4137), Université Victor Segalen Bordeaux 2, Bordeaux, France. carolinethambo@hotmail.com
Abstract:
Oculoauriculovertebral spectrum (OAVS) is a clinically and genetically heterogeneous congenital disorder. We performed high density oligonucleotide array-CGH on 86 OAVS patients and identified in 11 patients 12 novel genomic rearrangements (4 deletions and 8 duplications) ranging in size from 2.7 kb to 2.3 Mb. We discuss the potential pathogenic role of these chromosomal aberrations, and describe new candidate regions for OAVS.
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