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Article

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

BMC medical genomics - 19 Apr 2024

Wang Ethan Hung-Hsi, Lin Pei-Hsuan, Wu Pei-Liang, Kang Eugene Yu-Chuan, Liu Laura, Yeh Lung-Kun, Chen Kuan-Jen, Hsiao Meng-Chang, Wang Nan-Kai

Abstract excerpt

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 40-year-old female patient was referred to our department after undergoing aneurysm transcatheter arterial embolization for...

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PMID: 38641846
DOI: 10.1186/s12920-024-01850-6
PMCID: PMC11031983

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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