An ALG12-CDG patient with a novel homozygous intronic mutation associated with low ALG12 mRNA
Source: Orphanet Journal of Rare Diseases
Heterozygous pathogenic STT3A variation leads to dominant congenital glycosylation disorders and functional validation in zebrafish
Source: Orphanet Journal of Rare Diseases
CHIME Syndrome in a Child With Homozygous PIGL p.Leu167Pro Variant
Source: American Journal of Medical Genetics, Part A
Identification of CNTN2 as a genetic modifier of PIGA-CDG in a family with incomplete penetrance and in Drosophila
Source: American Journal of Human Genetics
Research advances on the glycomics for the diagnosis and treatment of congenital disorders of glycosylation
Source: Chinese Journal of Pediatrics
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