PhenomeGene — Human Disease Gene Website SeriesPIGO

Publications

Krawitz PM et al.Mutations in PIGO, a member of the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation. Am J Hum Genet. 2012;91(1):146-51. PMID: 22683086.

Kuki I et al.Vitamin B6-responsive epilepsy due to inherited GPI deficiency. Neurology. 2013;81(16):1467-9. PMID: 24049131.

Tanigawa J et al.Phenotype-genotype correlations of PIGO deficiency with variable phenotypes from infantile lethality to mild learning difficulties. Hum Mutat. 2017;38(7):805-815. PMID: 28337824.