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
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
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
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