Case Report

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

Figure 1

Ingenuity Variant Analysis (IVA) filtering schematic to determine genes of interest in the patient. Genes were filtered based upon confidence that the sequence was correctly sequenced, how common the gene is in the wider gene pool, a prediction of the variants’ deleterious effect, and then the type of genetic mutation that it is. was then used to determine the phenotypic relevance of the gene to the symptoms of our patient.