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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...
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| Yayımlandı: | Cold Spring Harb Mol Case Stud |
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| Asıl Yazarlar: | , , , , , |
| Materyal Türü: | Artigo |
| Dil: | Inglês |
| Baskı/Yayın Bilgisi: |
Cold Spring Harbor Laboratory Press
2017
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| Konular: | |
| Online Erişim: | 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 |
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