載入...
A new phenotype of choreic syndrome associating severe freezing of gait and chorea
The early onset of gait akinesia should not rule out the diagnosis of hereditary chorea. It would be helpful to proceed to a whole‐genome and long‐read sequencing in order to track a new pathogenic variant including noncoding repeat expansion.
Na minha lista:
| 發表在: | Clin Case Rep |
|---|---|
| Main Authors: | , , , , , , , |
| 格式: | Artigo |
| 語言: | Inglês |
| 出版: |
John Wiley and Sons Inc.
2020
|
| 主題: | |
| 在線閱讀: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7495783/ https://ncbi.nlm.nih.gov/pubmed/32983500 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ccr3.3008 |
| 標簽: |
添加標簽
沒有標簽, 成為第一個標記此記錄!
|