載入...

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...

全面介紹

Na minha lista:
書目詳細資料
發表在:Am J Med Genet A
Main Authors: Tang, S., Hughes, E., Lascelles, K., Simpson, M. A., Pal, D. K.
格式: Artigo
語言:Inglês
出版: John Wiley and Sons Inc. 2016
主題:
在線閱讀: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
標簽: 添加標簽
沒有標簽, 成為第一個標記此記錄!