Article
A novel mutation in RNF216 gene in a Turkish case with Gordon Holmes syndrome.
BMC medical genomics - 9 May 2023
Durmaz Çelik Nazlı, Erzurumluoğlu Ebru, Özben Serkan, Toprak Uğur, Yorulmaz Göknur, Artan Sevilhan, Özkan Serhat
Abstract excerpt
BACKGROUND: Gordon Holmes syndrome (GHS) is a rare autosomal recessive disorder characterized by hypogonadotropic hypogonadism, cognitive decline, and cerebellar ataxia. Mutations in the Ring Finger Protein 216 (RNF216) gene have been known to be associated with GHS therewithal RNF216 mutations have been detected in cases with Huntington-like disease, 4H syndrome (hypodontia, hypomyelination, ataxia and...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.