An intellectual disability syndrome with single-nucleotide variants in O-GlcNAc transferase.
Pravata VM, Omelková M, Stavridis MP, Desbiens CM, Stephen HM, Lefeber DJ, Gecz J, Gundogdu M, Õunap K, Joss S, Schwartz CE, Wells L, van Aalten DMF.
Pravata VM, et al. Among authors: stavridis mp.
Eur J Hum Genet. 2020 Jun;28(6):706-714. doi: 10.1038/s41431-020-0589-9. Epub 2020 Feb 20.
Eur J Hum Genet. 2020.
PMID: 32080367
Free PMC article.
Review.