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...
Salvato in:
| Autori principali: | , , , , |
|---|---|
| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
Elsevier
2023-01-01
|
| Serie: | Rare |
| Soggetti: | |
| Accesso online: | http://www.sciencedirect.com/science/article/pii/S2950008723000066 |
| Tags: |
Nessun Tag, puoi essere il primo ad aggiungerne!!
|
