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.

Autor: Esmaeilzadeh, Emran1 (AUTHOR), Biglari, Sajjad2,3,4 (AUTHOR), Mosallaei, Meysam1 (AUTHOR), Khorshid, Hamid Reza Khorram5 (AUTHOR), Vahidnezhad, Hassan3,4,6 (AUTHOR), Tabatabaiefar, Mohammad Amin2 (AUTHOR) tabatabaiefar@med.mui.ac.ir
Zdroj: Molecular Genetics & Genomic Medicine. Nov2024, Vol. 12 Issue 11, p1-10. 10p.
Databáze: Academic Search Ultimate
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