ロード中...
SPG20 mutation in three siblings with familial hereditary spastic paraplegia
Troyer syndrome (MIM#275900) is an autosomal recessive form of complicated hereditary spastic paraplegia. It is characterized by progressive lower extremity spasticity and weakness, dysarthria, distal amyotrophy, developmental delay, short stature, and subtle skeletal abnormalities. It is caused by...
保存先:
| 出版年: | Cold Spring Harb Mol Case Stud |
|---|---|
| 主要な著者: | , , , , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
Cold Spring Harbor Laboratory Press
2017
|
| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5495031/ https://ncbi.nlm.nih.gov/pubmed/28679690 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1101/mcs.a001537 |
| タグ: |
タグ追加
タグなし, このレコードへの初めてのタグを付けませんか!
|