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

• Ngā kaituhi matua: Nazlı Durmaz Çelik (Author), Ebru Erzurumluoğlu (Author), Serkan Özben (Author), Uğur Toprak (Author), Göknur Yorulmaz (Author), Sevilhan Artan (Author), Serhat Özkan (Author)
• Hōputu: Pukapuka
• I whakaputaina: BMC, 2023-05-01T00:00:00Z.
• Ngā marau: article
• Urunga tuihono: Connect to this object online.

Abstract 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 mutati...