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
Clinical and genetic analysis of two Chinese infants with Mabry syndrome.
Xue J et al.
Brain & Development, 2016
Delineation of PIGV mutation spectrum and associated phenotypes in hyperphosphatasia with mental retardation syndrome.
Horn D et al.
European Journal of Human Genetics : Ejhg, 2014
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