Llwytho...
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...
Wedi'i Gadw mewn:
| Cyhoeddwyd yn: | Cold Spring Harb Mol Case Stud |
|---|---|
| Prif Awduron: | , , , , , |
| Fformat: | Artigo |
| Iaith: | Inglês |
| Cyhoeddwyd: |
Cold Spring Harbor Laboratory Press
2017
|
| Pynciau: | |
| Mynediad Ar-lein: | 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 |
| Tagiau: |
Ychwanegu Tag
Dim Tagiau, Byddwch y cyntaf i dagio'r cofnod hwn!
|