Associated Papers
Bilateral Glaucoma as Possible Additional Feature for PGAP3-Associated Hyperphosphatasia.
Obaid O et al.
Case Reports in Genetics, 2024
Analysis of exome data in a UK cohort of 603 patients with syndromic orofacial clefting identifies causal molecular pathways.
Wilson K et al.
Human Molecular Genetics, 2023
37010288 (PubMed )
Supplement: supptables_hmg-2022-ce-00520-r1_wilson_without_id_ddad023.xlsx › S4
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
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
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
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