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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...
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| Foilsithe in: | Hum Genome Var |
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| Main Authors: | , |
| Formáid: | Artigo |
| Teanga: | Inglês |
| Foilsithe: |
Nature Publishing Group
2015
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| Ábhair: | |
| Rochtain Ar Líne: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4785543/ https://ncbi.nlm.nih.gov/pubmed/27081531 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/hgv.2015.18 |
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