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

• मुख्य लेखकों: Nazlı Durmaz Çelik (लेखक), Ebru Erzurumluoğlu (लेखक), Serkan Özben (लेखक), Uğur Toprak (लेखक), Göknur Yorulmaz (लेखक), Sevilhan Artan (लेखक), Serhat Özkan (लेखक)
• स्वरूप: पुस्तक
• प्रकाशित: BMC, 2023-05-01T00:00:00Z.
• विषय: article
• ऑनलाइन पहुंच: 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...