Associated Papers
CHIME Syndrome in a Child With Homozygous PIGL p.Leu167Pro Variant.
Arany ES et al.
American Journal of Medical Genetics. Part A, 2025
Null mutation in PGAP1 impairing Gpi-anchor maturation in patients with intellectual disability and encephalopathy.
Murakami Y et al.
Plos Genetics, 2014
Hypomorphic mutations in PGAP2, encoding a GPI-anchor-remodeling protein, cause autosomal-recessive intellectual disability.
Hansen L et al.
American Journal of Human Genetics, 2013
Mutations in the glycosylphosphatidylinositol gene PIGL cause CHIME syndrome.
Ng BG et al.
American Journal of Human Genetics, 2012
Large deletion in PIGL: a common mutational mechanism in CHIME syndrome?
Ceroni JR et al.
Genetics and Molecular Biology, 0
Select a paper to view details