Associated Papers
Characterization of glycosylphosphatidylinositol biosynthesis defects by clinical features, flow cytometry, and automated image analysis.
Knaus A et al.
Genome Medicine, 2018
PGAP3-related hyperphosphatasia with mental retardation syndrome: Report of 10 new patients and a homozygous founder mutation.
Abdel-Hamid MS et al.
Clinical Genetics, 2018
A novel PGAP3 mutation in a Croatian boy with brachytelephalangy and a thin corpus callosum.
Sakaguchi T et al.
Human Genome Variation, 2018
Select a paper to view details