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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...

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Autori principali: Mario Spoljaric, Zdravka Krivdic Dupan, Ruzica Palic Kramaric, Silva Guljas, Svetlana Tomic
Natura: Artigo
Lingua:Inglês
Pubblicazione: Elsevier 2023-01-01
Serie:Rare
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Accesso online:http://www.sciencedirect.com/science/article/pii/S2950008723000066
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