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
A novel homozygous PIGO mutation associated with severe infantile epileptic encephalopathy, profound developmental delay and psychomotor retardation: structural and 3D modelling investigations and genotype-phenotype correlation.
Aguech A et al.
Metabolic Brain Disease, 2023
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
Phenotype-genotype correlations of PIGO deficiency with variable phenotypes from infantile lethality to mild learning difficulties.
Tanigawa J et al.
Human Mutation, 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
PIGO mutations in intractable epilepsy and severe developmental delay with mild elevation of alkaline phosphatase levels.
Nakamura K et al.
Epilepsia, 2014
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