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

In this study, we describe a case with optic atrophy and a brain aneurysm, in ...

Source: BMC Medical Genomics - April 19, 2024 Category: Genetics & Stem Cells Authors: Ethan Hung-Hsi Wang, Pei-Hsuan Lin, Pei-Liang Wu, Eugene Yu-Chuan Kang, Laura Liu, Lung-Kun Yeh, Kuan-Jen Chen, Meng-Chang Hsiao and Nan-Kai Wang Tags: Case Report Source Type: research