دورية أكاديمية

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

التفاصيل البيبلوغرافية
العنوان: A novel de novo heterozygous pathogenic variant in the SDHA gene results in childhood onset bilateral optic atrophy and cognitive impairment
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
الوصف
تدمد:08857490
15737365
DOI:10.1007/s11011-021-00671-1