Case Report

Novel Splicing Mutation in B3GAT3 Associated with Short Stature, GH Deficiency, Hypoglycaemia, Developmental Delay, and Multiple Congenital Anomalies

Figure 2

Schematic representation of the exon-intron structure in B3GAT3 depicting the position of the splice site variant and the GT splice donor site. The variant results in the creation of an alternative splice site.