A novel mutation in RNF216 gene in a Turkish case with Gordon Holmes syndrome

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...

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Detalles Bibliográficos
Autores principales: Durmaz Çelik, Nazlı, Erzurumluoğlu, Ebru, Özben, Serkan, Toprak, Uğur, Yorulmaz, Göknur, Artan, Sevilhan, Özkan, Serhat
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10169457/
https://www.ncbi.nlm.nih.gov/pubmed/37161390
http://dx.doi.org/10.1186/s12920-023-01529-4

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10169457/
https://www.ncbi.nlm.nih.gov/pubmed/37161390
http://dx.doi.org/10.1186/s12920-023-01529-4

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