An intellectual disability syndrome with single-nucleotide variants in O-GlcNAc transferase

Intellectual disability (ID) is a neurodevelopmental condition that affects ~1% of the world population. In total 5−10% of ID cases are due to variants in genes located on the X chromosome. Recently, variants in OGT have been shown to co-segregate with X-linked intellectual disability (XLID) in mult...

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Detalles Bibliográficos
Autores principales: Pravata, Veronica M., Omelková, Michaela, Stavridis, Marios P., Desbiens, Chelsea M., Stephen, Hannah M., Lefeber, Dirk J., Gecz, Jozef, Gundogdu, Mehmet, Õunap, Katrin, Joss, Shelagh, Schwartz, Charles E., Wells, Lance, van Aalten, Daan M. F.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer International Publishing 2020
Materias:
Review Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7253464/
https://www.ncbi.nlm.nih.gov/pubmed/32080367
http://dx.doi.org/10.1038/s41431-020-0589-9

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