Cléis Beaulieu, Aymane Bouzidi, Valérie Desquiret-Dumas, Xavier Dieu, Rahul Makam, Neringa Jurkute, Catherine Vignal, Manon Philibert, Sylvie Odent, Xavier Zanlonghi, Marie Latypov, Eloi Debourdeau, Béatrice Bocquet, Raihane Yahia, Linda Pons, Frédéric Pollet Villard, Luc Jeanjean, Sarah Verrecchia, Caroline Froment, Camille Engel, Céline Poirsier, Carl Arndt, Hélène Dollfus, Philippe Gohier, Majida Charif, Marc Ferré, Delphine Prunier-Mirebeau, Isabelle Meunier, Patrick Yu-Wai-Man, Patrizia Amati-Bonneau, Guy Lenaers, Vasily Smirnov
چکیده
Aconitase 2 (ACO2) gene variants are one of the most frequent causes of dominant optic atrophy (DOA). However, the associated phenotypes and genotypes still lack proper characterization. To characterize the clinical and genetic spectrum of ACO2-related DOA and evaluate genotype-phenotype…
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DOI: 10.1001/jamaophthalmol.2026.0634