https://www.selleckchem.com/pr....oducts/aebsf-hcl.htm
The proband showed characteristics of CdLS including thick eyebrows, a concave nasal ridge, long and smooth philtrum, downturned corners of the mouth, intellectual disability, postnatal growth retardation, and a short fifth toe. A novel de novo heterozygous pathogenic variant in the (c.-467C T) was identified. A Dual-Luciferase reporter gene assay showed that SPO1 (-490 bp to -360 bp) and SPO3 (-490 bp to -401 bp) induced the highest activity. We found a novel de novo heterozygous pathogenic variant (c.-467C T) in the result
Like
Comment
Share
