PIGW

Publications

Chiyonobu T et al. Glycosylphosphatidylinositol (GPI) anchor deficiency caused by mutations in PIGW is associated with West syndrome and hyperphosphatasia with mental retardation syndrome. J Med Genet. 2014;51(3):203-7. PMID: 24367057.

Hogrebe M et al. A novel mutation in PIGW causes glycosylphosphatidylinositol deficiency without hyperphosphatasia. Am J Med Genet A. 2016;170(12):3319-3322. 2016 PMID: 27626616.

Foskett GK et al. Use of Flow Cytometry for Diagnosis of Epilepsy Associated With Homozygous PIGW Variants. Pediatr Neurol. 2018;85:67-70. PMID: 30078644.

Fu L et al. Mutations in the PIGW gene associated with hyperphosphatasia and mental retardation syndrome: a case report. BMC Pediatr. 2019;19(1):68. PMID: 30813920.

Peron A et al. PIGW-related glycosylphosphatidylinositol deficiency: Description of a new patient and review of the literature. Am J Med Genet A. 2020;182(6):1477-1482. PMID: 32198969.