Genetic underpinnings explored: OPA1 deletion and complex phenotypes on chromosome 3q29

• Main Authors: Ethan Hung-Hsi Wang (Author), Pei-Hsuan Lin (Author), Pei-Liang Wu (Author), Eugene Yu-Chuan Kang (Author), Laura Liu (Author), Lung-Kun Yeh (Author), Kuan-Jen Chen (Author), Meng-Chang Hsiao (Author), Nan-Kai Wang (Author)
• Format: Book
• Published: BMC, 2024-04-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract Background Copy number variations (CNVs) have emerged as significant contributors to the elusive genetic causality of inherited eye diseases. In this study, we describe a case with optic atrophy and a brain aneurysm, in which a de novo CNV 3q29 deletion was identified. Case presentation A 4...