Huntington-like disease caused by a novel RNF216/TRIAD3 pathogenic variant
The main objective of this case report is the presentation of a novel homozygous pathogenic variant of the RNF216 gene in a male patient diagnosed with Gordon Holmes syndrome. The patient presented with dominant generalized chorea, ataxia, dysarthria, and less pronounced hypogonadism accompanied by...
Furkejuvvon:
| Váldodahkkit: | , , , , |
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| Materiálatiipa: | Artigo |
| Giella: | Inglês |
| Almmustuhtton: |
Elsevier
2023-01-01
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| Ráidu: | Rare |
| Fáttát: | |
| Liŋkkat: | http://www.sciencedirect.com/science/article/pii/S2950008723000066 |
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