Nguyen TTM et al. A PIGH mutation leading to GPI deficiency is associated with developmental delay and autism. Hum Mutat. 2018;39(6):827-829. PMID: 29603516.

Tremblay-Laganière C et al. PIGH deficiency can be associated with severe neurodevelopmental and skeletal manifestations. Clin Genet. 2021;99(2):313-317. PMID: 33156547.

Do Rosario MC et al. Homozygous variant p.(Arg163Trp) in PIGH causes glycosylphosphatidylinositol biosynthesis defect with epileptic encephalopathy and delayed myelination. Clin Dysmorphol. 2022. PMID: 35445667.