Excluding Digenic Inheritance of PGAP2 and PGAP3 Variants in Mabry Syndrome (OMIM 239300) Patient: Phenotypic Spectrum Associated with PGAP2 Gene Variants in Hyperphosphatasia with Mental Retardation Syndrome-3 (HPMRS3).
Miles D ThompsonXueying LiMichele Spencer-ManzonDanielle M AndradeYoshiko MurakamiTaroh KinoshitaThomas O CarpenterPublished in: Genes (2023)
c:284A>G, p.Tyr95Cys. We discuss strategies for establishing evidence for putative digenic inheritance in GPI deficiency disorders.