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
Genetic Variants in Recurrent Euploid Pregnancy Loss.
Aminbeidokhti M et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Characteristics of Neuroimaging and Behavioural Phenotype in Polish Patients with PIGV-CDG-An Observational Study and Literature Review.
Hutny M et al.
Genes, 2023
Pyridoxine or pyridoxal-5-phosphate treatment for seizures in glycosylphosphatidylinositol deficiency: A cohort study.
Bayat A et al.
Developmental Medicine and Child Neurology, 2022
Skeletal and Bone Mineral Density Features, Genetic Profile in Congenital Disorders of Glycosylation: Review.
Lipiński P et al.
Diagnostics (basel, Switzerland), 2021
The Glycosylphosphatidylinositol biosynthesis pathway in human diseases.
Wu T et al.
Orphanet Journal of Rare Diseases, 2020
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
Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.
Wright CF et al.
American Journal of Human Genetics, 2019
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
Hypomorphic mutations in PGAP2, encoding a GPI-anchor-remodeling protein, cause autosomal-recessive intellectual disability.
Hansen L et al.
American Journal of Human Genetics, 2013
Phenotypic variability in hyperphosphatasia with seizures and neurologic deficit (Mabry syndrome).
Thompson MD et al.
American Journal of Medical Genetics. Part A, 2012
Hyperphosphatasia-mental retardation syndrome due to PIGV mutations: expanded clinical spectrum.
Horn D et al.
American Journal of Medical Genetics. Part A, 2011