Genetic underpinnings explored: OPA1 deletion and complex phenotypes on chromosome 3q29
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...
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BMC,
2024-04-01T00:00:00Z.
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