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

<div>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.</div>

Case Reports in Genetics

fig2

Figure 2

Figure 2: Novel Splicing Mutation in<i> B3GAT3</i> Associated with Short Stature, GH Deficiency, Hypoglycaemia, Developmental Delay, and Multiple Congenital Anomalies 

Figure 2 | Novel Splicing Mutation in B3GAT3 Associated with Short Stature, GH Deficiency, Hypoglycaemia, Developmental Delay, and Multiple Congenital Anomalies 