PhenomeGene — Human Disease Gene Website SeriesPIGV

Publications

Horn D et al.Delineation of PIGV mutation spectrum and associated phenotypes in hyperphosphatasia with mental retardation syndrome. Eur J Hum Genet. 2014;22(6):762-7. PMID: 24129430.

Knaus A et al.Characterization of glycosylphosphatidylinositol biosynthesis defects by clinical features, flow cytometry, and automated image analysis. Genome Med. 2018;10(1):3. PMID: 29310717.