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A novel MED12 mutation associated with non-specific X-linked intellectual disability
The mediator complex subunit 12 gene (MED12) is responsible for an X-linked recessive intellectual disability syndrome that is characterized by dysmorphic features such as a long, narrow face and blepharophimosis, which is now recognized as an MED12-related syndrome. We identified a novel non-synony...
| Autores principales: | , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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Nature Publishing Group
2015
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4785543/ https://www.ncbi.nlm.nih.gov/pubmed/27081531 http://dx.doi.org/10.1038/hgv.2015.18 |