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
PEDIA: prioritization of exome data by image analysis.
Hsieh TC et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
31164752 (PubMed )
Supplement: 41436_2019_566_MOESM2_ESM.xlsx › Sheet1
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
Phenotypic variability in hyperphosphatasia with seizures and neurologic deficit (Mabry syndrome).
Thompson MD et al.
American Journal of Medical Genetics. Part A, 2012
Mechanism for release of alkaline phosphatase caused by glycosylphosphatidylinositol deficiency in patients with hyperphosphatasia mental retardation syndrome.
Murakami Y et al.
The Journal of Biological Chemistry, 2012
Hyperphosphatasia-mental retardation syndrome due to PIGV mutations: expanded clinical spectrum.
Horn D et al.
American Journal of Medical Genetics. Part A, 2011
Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome.
Krawitz PM et al.
Nature Genetics, 2010
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