
Multigene panel next generation sequencing in a patient with cherry red macular spot: Identification of two novel mutations in NEU1 gene causing sialidosis type I associated with mild to unspecific biochemical and enzymatic findings
Keywords: اسید deoxyribonucleic; DNA; deoxyribonucleic acid; EEG; electroencephalography; Multigene panel next generation sequencing; Lysosomal storage disease; NEU1 gene; Sialidosis; c.699CÂ >Â A (p.S233R); c.803AÂ >Â G (p.Y268C);