Associated Papers
Functional Characterization of Two Novel Biallelic PIGV Variants in a Patient With Myoclonic Seizures and Elevated Alkaline Phosphatase: A Case Report.
Wilke MVMB et al.
American Journal of Medical Genetics. Part A, 2026
Characteristics of Neuroimaging and Behavioural Phenotype in Polish Patients with PIGV-CDG-An Observational Study and Literature Review.
Hutny M et al.
Genes, 2023
Inherited glycophosphatidylinositol deficiency variant database and analysis of pathogenic variants.
Baratang NV et al.
Molecular Genetics & Genomic Medicine, 2019
Clinical and genetic analysis of two Chinese infants with Mabry syndrome.
Xue J et al.
Brain & Development, 2016
Mutations Impairing GSK3-Mediated MAF Phosphorylation Cause Cataract, Deafness, Intellectual Disability, Seizures, and a Down Syndrome-like Facies.
Niceta M et al.
American Journal of Human Genetics, 2015
25865493 (PubMed )
Supplement: mmc1.pdf
Mutations in PGAP3 impair GPI-anchor maturation, causing a subtype of hyperphosphatasia with mental retardation.
Howard MF et al.
American Journal of Human Genetics, 2014
Phenotypic variability in hyperphosphatasia with seizures and neurologic deficit (Mabry syndrome).
Thompson MD et al.
American Journal of Medical Genetics. Part A, 2012
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