Associated Papers
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
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