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A Novel Homozygote Pathogenic Variant in the DIAPH1 Gene Associated With Seizures, Cortical Blindness, and Microcephaly Syndrome (SCBMS): Report of a Family and Literature Review.
Esmaeilzadeh E, Biglari S, Mosallaei M, Khorshid HRK, Vahidnezhad H, Tabatabaiefar MA. Esmaeilzadeh E, et al. Among authors: tabatabaiefar ma. Mol Genet Genomic Med. 2024 Nov;12(11):e70031. doi: 10.1002/mgg3.70031. Mol Genet Genomic Med. 2024. PMID: 39578953 Free PMC article. Review.
123 results