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New SMARCA2 mutation in a patient with Nicolaides–Baraitser syndrome and myoclonic astatic epilepsy
We report a de novo SMARCA2 missense mutation discovered on exome sequencing in a patient with myoclonic astatic epilepsy, leading to reassessment and identification of Nicolaides–Baraitser syndrome. This de novo SMARCA2 missense mutation c.3721C>G, p.Gln1241Glu is the only reported mutation on e...
Enregistré dans:
| Publié dans: | Am J Med Genet A |
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| Auteurs principaux: | , , , , |
| Format: | Artigo |
| Langue: | Inglês |
| Publié: |
John Wiley and Sons Inc.
2016
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| Sujets: | |
| Accès en ligne: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5516167/ https://ncbi.nlm.nih.gov/pubmed/27665729 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.37935 |
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