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Molecularly confirmed Kabuki (Niikawa-Kuroki) syndrome patients demonstrate a specific cognitive profile with extensive visuospatial abnormalities.
BACKGROUND: Kabuki (Niikawa-Kuroki) syndrome (KS) is caused by disease causing variants in either of two components (KMT2D, KDM6A) of the histone methylation machinery. Nearly all individuals with KS have cognitive difficulties and most have Intellectual Disability (ID). Recent studies on a mouse mo...
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| Veröffentlicht in: | J Intellect Disabil Res |
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| Hauptverfasser: | , , |
| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
2019
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| Schlagworte: | |
| Online Zugang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6499655/ https://ncbi.nlm.nih.gov/pubmed/30767315 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/jir.12596 |
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