Associated Papers
In-Depth Phenotyping of PIGW-Related Disease and Its Role in 17q12 Genomic Disorder.
Feresin A et al.
Biomolecules, 2024
PIGW-related glycosylphosphatidylinositol deficiency: A case report and literature review.
Fang Z et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2024
PIGW-related glycosylphosphatidylinositol deficiency: Description of a new patient and review of the literature.
Peron A et al.
American Journal of Medical Genetics. Part A, 2020
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
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
31345222 (PubMed )
Supplement: 12920_2019_543_MOESM5_ESM.xlsx › S4
Mutations in the PIGW gene associated with hyperphosphatasia and mental retardation syndrome: a case report.
Fu L et al.
Bmc Pediatrics, 2019
Glycosylphosphatidylinositol (GPI) anchor deficiency caused by mutations in PIGW is associated with West syndrome and hyperphosphatasia with mental retardation syndrome.
Chiyonobu T et al.
Journal of Medical Genetics, 2014
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