Publications by authors named "Kris Liedtke"
Am J Med Genet A
January 2021
Article Synopsis
- Glycosylation is essential for the immune system's development and function, with abnormalities linked to issues like antibody deficiency and lymphocyte signaling problems.
- Human MGAT2 is a key gene in the production of complex N-glycans, necessary for immune functionality, and mutations can lead to disorders like MGAT2-CDG, which causes severe developmental issues and various medical complications.
- A case study of a 4-year-old girl with a novel mutation in MGAT2 highlights unique clinical features and contrasts with previous cases, enhancing the understanding of MGAT2-CDG’s genetic and phenotypic diversity.
