A novel de novo heterozygous pathogenic variant in the SDHA gene results in childhood onset bilateral optic atrophy and cognitive impairment

Yoav Zehavi, Ann Saada, Haneen Jabaly-Habib, Moshe Dessau, Avraham Shaag, Orly Elpeleg, Ronen Spiegel

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Neuroscience

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Biochemistry, Genetics and Molecular Biology