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Language and Cognitive Impairment Associated with a Novel p.Cys63Arg Change in the MED13L Transcriptional Regulator
Mutations in the MED13L gene, which encodes a subunit of a transcriptional regulatory complex, result in a complex phenotype entailing physical and cognitive anomalies. Deep language impairment has been reported in affected individuals, mostly in patients with copy number variations. We report on a...
Enregistré dans:
| Publié dans: | Mol Syndromol |
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| Auteurs principaux: | , , |
| Format: | Artigo |
| Langue: | Inglês |
| Publié: |
S. Karger AG
2018
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| Sujets: | |
| Accès en ligne: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5836249/ https://ncbi.nlm.nih.gov/pubmed/29593475 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000485638 |
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