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

• Главные авторы: Ethan Hung-Hsi Wang (Автор), Pei-Hsuan Lin (Автор), Pei-Liang Wu (Автор), Eugene Yu-Chuan Kang (Автор), Laura Liu (Автор), Lung-Kun Yeh (Автор), Kuan-Jen Chen (Автор), Meng-Chang Hsiao (Автор), Nan-Kai Wang (Автор)
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• Опубликовано: BMC, 2024-04-01T00:00:00Z.
• Предметы: article
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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...