Search Results - "Siavashani, Elham Salehi"

Whole‐exome sequencing identified first homozygous frameshift variant in the COLEC10 gene in an Iranian patient causing 3MC syndrome type 3 by Mohammadi, Pouria, Salehi Siavashani, Elham, Mohammadi, Mohammad Farid, Bahramy, Afshin, Almadani, Navid, Garshasbi, Masoud

“…Background 3MC syndrome type 3 is an autosomal recessive disorder caused by mutations in the COLEC10 gene besides other genes like COLEC11 and MASP1. This…”
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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 by Siavashani, Elham Salehi, Ashrafi, Mahmoud Reza, Ghabeli, Homa, Heidari, Morteza, Garshasbi, Masoud

“…Abstract Background Pathogenic variants in the ATCAY gene are associated with a rare autosomal recessive disorder called Cayman cerebellar ataxia. Affected…”
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A novel metabolic disorder in the degradation pathway of endogenous methanol due to a mutation in the gene of alcohol dehydrogenase by Razzaghy-Azar, Maryam, Nourbakhsh, Mitra, Vafadar, Mehdi, Nourbakhsh, Mona, Talebi, Saeed, Sharifi-Zarchi, Ali, Salehi Siavashani, Elham, Garshasbi, Masoud

“…•This is the first report of high methanol blood level.•Formaldehyde and formic acid were undetectable.•This disease was caused by genetic defect in alcohol…”
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