Article

A Novel Mutation in Rnf216 Gene in a Turkish Case With Gordon Holmes Syndrome

2023-01-20

Abstract excerpt

<h4>Background: </h4> 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...

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Literature Corpus work: 1e4bc684-24ae-530c-a088-adee4c528209
DOI: 10.21203/rs.3.rs-2416104/v1

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