Kohashi K et al. Epileptic apnea in a patient with inherited glycosylphosphatidylinositol anchor deficiency and PIGT mutations. Brain Dev. 2018;40(1):53-57. PMID: 28728837.
Krawitz PM et al. A case of paroxysmal nocturnal hemoglobinuria caused by a germline mutation and a somatic mutation in PIGT. Blood. 2013;122(7):1312-5. PMID: 23733340.
Kvarnung M et al. A novel intellectual disability syndrome caused by GPI anchor deficiency due to homozygous mutations in PIGT. J Med Genet. 2013;50(8):521-8. PMID: 23636107.
Lam C et al. Expanding the clinical and molecular characteristics of PIGT-CDG, a disorder of glycosylphosphatidylinositol anchors. Mol Genet Metab. 2015;115(2-3):128-140. PMCID: PMC6341466.
Nakashima M et al. Novel compound heterozygous PIGT mutations caused multiple congenital anomalies-hypotonia-seizures syndrome 3. Neurogenetics. 2014;15(3):193-200. PMID: 24906948.