Associated Papers
A Novel PGAP3 Gene Mutation-Related Megalocornea Can Be Misdiagnosed as Primary Congenital Glaucoma.
Alhaidari AI et al.
Cureus, 2022
The Glycosylphosphatidylinositol biosynthesis pathway in human diseases.
Wu T et al.
Orphanet Journal of Rare Diseases, 2020
32466763 (PubMed )
Supplement: 13023_2020_1401_MOESM1_ESM.xlsx › Sheet1
Delineating the phenotypic spectrum of hyperphosphatasia with mental retardation syndrome 4 in 14 patients of Middle-Eastern origin.
Balobaid A et al.
American Journal of Medical Genetics. Part A, 2018
A novel PGAP3 mutation in a Croatian boy with brachytelephalangy and a thin corpus callosum.
Sakaguchi T et al.
Human Genome Variation, 2018
Analysis of exome data for 4293 trios suggests GPI-anchor biogenesis defects are a rare cause of developmental disorders.
Pagnamenta AT et al.
European Journal of Human Genetics : Ejhg, 2017
Rare Noncoding Mutations Extend the Mutational Spectrum in the PGAP3 Subtype of Hyperphosphatasia with Mental Retardation Syndrome.
Knaus A et al.
Human Mutation, 2016
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
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