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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...
Autores principales: | , , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Springer International Publishing
2020
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Materias: | |
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 |