Associated Papers
O-GlcNAc transferase congenital disorder of glycosylation (OGT-CDG): Potential mechanistic targets revealed by evaluating the OGT interactome.
Mayfield JM et al.
The Journal of Biological Chemistry, 2024
Case Report: Identification of a novel PRR12 variant in a Chinese boy with developmental delay and short stature.
Liu Z et al.
Frontiers in Pediatrics, 2024
38798311 (PubMed )
Supplement: Table1.xlsx › Sheet1
Haploinsufficiency of PRR12 causes a spectrum of neurodevelopmental, eye, and multisystem abnormalities.
Chowdhury F et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
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