Associated Papers
Two case reports and a literature review of hyperphosphatasia with intellectual disability syndrome 2 caused by a PIGO mutation.
Wang X et al.
Frontiers in Pediatrics, 2025
Inherited glycophosphatidylinositol deficiency variant database and analysis of pathogenic variants.
Baratang NV et al.
Molecular Genetics & Genomic Medicine, 2019
A homozygous PIGO mutation associated with severe infantile epileptic encephalopathy and corpus callosum hypoplasia, but normal alkaline phosphatase levels.
Zehavi Y et al.
Metabolic Brain Disease, 2017
PIGO deficiency: palmoplantar keratoderma and novel mutations.
Morren MA et al.
Orphanet Journal of Rare Diseases, 2017
Clinical and genetic analysis of two Chinese infants with Mabry syndrome.
Xue J et al.
Brain & Development, 2016
Neurogenetic Aspects of Hyperphosphatasia in Mabry Syndrome.
Cole DE et al.
Sub-cellular Biochemistry, 2015
Null mutation in PGAP1 impairing Gpi-anchor maturation in patients with intellectual disability and encephalopathy.
Murakami Y et al.
Plos Genetics, 2014
PIGO mutations in intractable epilepsy and severe developmental delay with mild elevation of alkaline phosphatase levels.
Nakamura K et al.
Epilepsia, 2014
Hypomorphic mutations in PGAP2, encoding a GPI-anchor-remodeling protein, cause autosomal-recessive intellectual disability.
Hansen L et al.
American Journal of Human Genetics, 2013
Mutations in PIGO, a member of the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation.
Krawitz PM et al.
American Journal of Human Genetics, 2012
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