Novel homozygous frameshift variant in the ATCAY gene in an Iranian patient with Cayman cerebellar ataxia; expanding the neuroimaging and clinical features: a case report.

Autor: Siavashani, Elham Salehi1,2 (AUTHOR), Ashrafi, Mahmoud Reza3 (AUTHOR), Ghabeli, Homa4 (AUTHOR), Heidari, Morteza3,4 (AUTHOR) mortezah93@gmail.com, Garshasbi, Masoud5 (AUTHOR) masoud.garshasbi@modares.ac.ir
Zdroj: BMC Medical Genomics. 9/26/2023, Vol. 16 Issue 1, p1-6. 6p.
Databáze: Academic Search Ultimate
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