Congenital disorder of glycosylphosphatidylinositol (GPI)-anchor biosynthesis-The phenotype of two patients with novel mutations in the PIGN and PGAP2 genes

Based on our results we can conclude that: 1. GPI-anchor biosynthesis disorders may represent a relatively frequent and overlooked metabolic defect; 2. The utility of GPI binding assessment as a screening test for this group of rare diseases requires further studies.