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Intellectual disability and non-compaction cardiomyopathy with a de novo NONO mutation identified by exome sequencing
Pathogenic variants in the NONO gene have been most recently implicated in X-linked intellectual disability syndrome. This observation has been supported by studies of NONO-deficient mice showing that NONO has an important role in regulating inhibitory synaptic activity. Thus far, the phenotypic spe...
Tallennettuna:
| Julkaisussa: | Eur J Hum Genet |
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| Päätekijät: | , , , , |
| Aineistotyyppi: | Artigo |
| Kieli: | Inglês |
| Julkaistu: |
Nature Publishing Group
2016
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| Aiheet: | |
| Linkit: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5110068/ https://ncbi.nlm.nih.gov/pubmed/27329731 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2016.72 |
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