دورية أكاديمية
A novel de novo heterozygous pathogenic variant in the SDHA gene results in childhood onset bilateral optic atrophy and cognitive impairment
العنوان: | A novel de novo heterozygous pathogenic variant in the SDHA gene results in childhood onset bilateral optic atrophy and cognitive impairment |
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المؤلفون: | Zehavi, YoavAff1, Aff2, Saada, AnnAff3, Aff4, Jabaly-Habib, Haneen, Dessau, Moshe, Shaag, Avraham, Elpeleg, OrlyAff3, Aff4, Spiegel, RonenAff1, Aff2 |
المصدر: | Metabolic Brain Disease. 36(4):581-588 |
قاعدة البيانات: | Springer Nature Journals |
تدمد: | 08857490 15737365 |
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DOI: | 10.1007/s11011-021-00671-1 |