載入...
Dominant deafness–onychodystrophy syndrome caused by an ATP6V1B2 mutation
Our report clarifies the role of ATP6V1B2 in patients with deafness and onycho‐osteodystrophy and confirms that a recurring ATP6V1B2 c.1516C>T [p.(Arg506*)], variant causes dominant deafness–onychodystrophy (DDOD) syndrome.
Na minha lista:
| 發表在: | Clin Case Rep |
|---|---|
| Main Authors: | , , , , , , , |
| 格式: | Artigo |
| 語言: | Inglês |
| 出版: |
John Wiley and Sons Inc.
2017
|
| 主題: | |
| 在線閱讀: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5378843/ https://ncbi.nlm.nih.gov/pubmed/28396750 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ccr3.761 |
| 標簽: |
添加標簽
沒有標簽, 成為第一個標記此記錄!
|